{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T22:16:25Z","timestamp":1785536185345,"version":"3.56.0"},"reference-count":152,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2016,11,1]],"date-time":"2016-11-01T00:00:00Z","timestamp":1477958400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","bloodreviews.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Blood Reviews"],"published-print":{"date-parts":[[2016,11]]},"DOI":"10.1016\/j.blre.2016.07.001","type":"journal-article","created":{"date-parts":[[2016,7,17]],"date-time":"2016-07-17T00:43:21Z","timestamp":1468716201000},"page":"493-508","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":38,"title":["Beta thalassemia in 31,734 cases with HBB gene mutations: Pathogenic and structural analysis of the common mutations; Iran as the crossroads of the Middle East"],"prefix":"10.1016","volume":"30","author":[{"given":"Nejat","family":"Mahdieh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bahareh","family":"Rabbani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.blre.2016.07.001_bb0005","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1111\/j.1365-2141.1992.tb08132.x","article-title":"Dominant thalassaemia molecular basis and pathophysiology","volume":"80","author":"Thein","year":"1992","journal-title":"Br J Haematol"},{"key":"10.1016\/j.blre.2016.07.001_bb0010","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1080\/00365510601046417","article-title":"The thalassaemia syndromes","volume":"67","author":"Birgens","year":"2007","journal-title":"Scand J Clin Lab Invest"},{"key":"10.1016\/j.blre.2016.07.001_bb0015","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1097\/MPH.0b013e3180437e02","article-title":"Thalassemia in Iran: epidemiology, prevention, and management","volume":"29","author":"Abolghasemi","year":"2007","journal-title":"J Pediatr Hematol Oncol"},{"key":"10.1016\/j.blre.2016.07.001_bb0020","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1186\/1750-1172-5-11","article-title":"Beta-thalassemia","volume":"5","author":"Galanello","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.blre.2016.07.001_bb0025","first-page":"1006","article-title":"A national register for surveillance of inherited disorders: beta thalassaemia in the United Kingdom","volume":"79","author":"Modell","year":"2001","journal-title":"Bull World Health Organ"},{"key":"10.1016\/j.blre.2016.07.001_bb0030","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1038\/ejhg.2010.90","article-title":"Carrier screening for beta-thalassaemia: a review of international practice","volume":"18","author":"Cousens","year":"2010","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.blre.2016.07.001_bb0035","first-page":"29","article-title":"A series of cases of splenomegaly in children with anemia and peculiar bone changes","volume":"37","author":"Cooley","year":"1925","journal-title":"Trans Am Pediatr Soc"},{"key":"10.1016\/j.blre.2016.07.001_bb0040","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1007\/BF02760702","article-title":"Growth of children with beta-thalassemia major","volume":"72","author":"Low","year":"2005","journal-title":"Indian J Pediatr"},{"key":"10.1016\/j.blre.2016.07.001_bb0045","first-page":"383","article-title":"Erythropoietic development and hemoglobin switching in human embryos: cellular and molecular aspects","volume":"191","author":"Peschle","year":"1985","journal-title":"Prog Clin Biol Res"},{"key":"10.1016\/j.blre.2016.07.001_bb0050","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1080\/08998280.2006.11928171","article-title":"Structure\u2013function relations of human hemoglobins","volume":"19","author":"Marengo-Rowe","year":"2006","journal-title":"Proc (Baylor Univ Med Cent)"},{"key":"10.1016\/j.blre.2016.07.001_bb0055","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1016\/0092-8674(80)90087-2","article-title":"Molecular cloning and characterization of the human beta-like globin gene cluster","volume":"19","author":"Fritsch","year":"1980","journal-title":"Cell"},{"key":"10.1016\/j.blre.2016.07.001_bb0060","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1016\/0092-8674(80)90427-4","article-title":"Complete nucleotide sequence of the human delta-globin gene","volume":"21","author":"Spritz","year":"1980","journal-title":"Cell"},{"key":"10.1016\/j.blre.2016.07.001_bb0065","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1111\/j.1749-6632.1980.tb33651.x","article-title":"The structural analysis of the human epsilon-globin gene and its product","volume":"344","author":"Baralle","year":"1980","journal-title":"Ann N Y Acad Sci"},{"key":"10.1016\/j.blre.2016.07.001_bb0070","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1016\/0092-8674(80)90426-2","article-title":"Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes","volume":"21","author":"Slightom","year":"1980","journal-title":"Cell"},{"key":"10.1016\/j.blre.2016.07.001_bb0075","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1038\/338352a0","article-title":"A dominant control region from the human beta-globin locus conferring integration site-independent gene expression","volume":"338","author":"Talbot","year":"1989","journal-title":"Nature"},{"key":"10.1016\/j.blre.2016.07.001_bb0080","first-page":"149","article-title":"Identifying human disease genes by positional cloning","volume":"86","author":"Collins","year":"1990","journal-title":"Harvey Lect"},{"key":"10.1016\/j.blre.2016.07.001_bb0085","doi-asserted-by":"crossref","first-page":"D1063","DOI":"10.1093\/nar\/gkt911","article-title":"Updates of the HbVar database of human hemoglobin variants and thalassemia mutations","volume":"42","author":"Giardine","year":"2014","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.blre.2016.07.001_bb0090","author":"Huisman"},{"key":"10.1016\/j.blre.2016.07.001_bb0095","doi-asserted-by":"crossref","first-page":"D537","DOI":"10.1093\/nar\/gkh006","article-title":"Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies","volume":"32","author":"Patrinos","year":"2004","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.blre.2016.07.001_bb0100","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1111\/j.1365-2257.1996.tb01286.x","article-title":"Frequency of delta+27-thalassaemia in Sardinians","volume":"18","author":"Guiso","year":"1996","journal-title":"Clin Lab Haematol"},{"key":"10.1016\/j.blre.2016.07.001_bb0105","series-title":"The Thalassemias and Related Disorders, Quantitative Disorders of Hemoglobin Synthesis","author":"Lukens","year":"1993"},{"key":"10.1016\/j.blre.2016.07.001_bb0110","series-title":"Thalassemia","first-page":"50","volume":"4","author":"Haghshenas","year":"1997"},{"key":"10.1016\/j.blre.2016.07.001_bb0115","first-page":"405","article-title":"Thalassemia control in Greece","volume":"23","author":"Loukopoulos","year":"1988","journal-title":"Birth Defects Orig Artic Ser"},{"key":"10.1016\/j.blre.2016.07.001_bb0120","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1086\/381402","article-title":"2003 William Allan Award address. The thalassemias: the role of molecular genetics in an evolving global health problem","volume":"74","author":"Weatherall","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.blre.2016.07.001_bb0125","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1016\/0140-6736(90)92467-V","article-title":"Ethnic distribution of beta-thalassaemia in Indian subcontinent","volume":"336","author":"Parikh","year":"1990","journal-title":"Lancet"},{"key":"10.1016\/j.blre.2016.07.001_bb0130","first-page":"356","article-title":"High prevalence of rare mutations in the beta globin gene in an ethnic group in Iran","volume":"13","author":"Galehdari","year":"2011","journal-title":"Iran Red Crescent Med J"},{"key":"10.1016\/j.blre.2016.07.001_bb0135","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1080\/03630260701641245","article-title":"Multicenter study of the molecular basis of thalassemia intermedia in different ethnic populations","volume":"31","author":"Verma","year":"2007","journal-title":"Hemoglobin"},{"key":"10.1016\/j.blre.2016.07.001_bb0140","first-page":"410","article-title":"Spectrum of \u00df-thalassemia mutations in various ethnic regions of Iran","volume":"24","author":"Rahim","year":"2008","journal-title":"Pak J Med Sci"},{"key":"10.1016\/j.blre.2016.07.001_bb0145","doi-asserted-by":"crossref","first-page":"138","DOI":"10.3109\/03630269.2013.769886","article-title":"Sistani population: a different spectrum of beta-thalassemia mutations from other ethnic groups of Iran","volume":"37","author":"Miri-Moghaddam","year":"2013","journal-title":"Hemoglobin"},{"key":"10.1016\/j.blre.2016.07.001_bb0150","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1159\/000154419","article-title":"The spectrum of beta-thalassaemia mutations in the Lebanon","volume":"47","author":"Zahed","year":"1997","journal-title":"Hum Hered"},{"key":"10.1016\/j.blre.2016.07.001_bb0155","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1353\/hub.2003.0013","article-title":"Origin and history of the IVS-I-110 and codon 39 beta-thalassemia mutations in the Lebanese population","volume":"74","author":"Zahed","year":"2002","journal-title":"Hum Biol"},{"key":"10.1016\/j.blre.2016.07.001_bb0160","doi-asserted-by":"crossref","first-page":"1134","DOI":"10.1136\/bmj.329.7475.1134","article-title":"Iranian national thalassaemia screening programme","volume":"329","author":"Samavat","year":"2004","journal-title":"BMJ"},{"key":"10.1016\/j.blre.2016.07.001_bb0165","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1093\/dnares\/dsq010","article-title":"Mutation@A Glance: an integrative web application for analysing mutations from human genetic diseases","volume":"17","author":"Hijikata","year":"2010","journal-title":"DNA Res"},{"key":"10.1016\/j.blre.2016.07.001_bb0170","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1038\/nprot.2009.2","article-title":"Protein structure prediction on the web: a case study using the Phyre server","volume":"4","author":"Kelley","year":"2009","journal-title":"Nat Protoc"},{"key":"10.1016\/j.blre.2016.07.001_bb0175","doi-asserted-by":"crossref","first-page":"W466","DOI":"10.1093\/nar\/gks489","article-title":"CombFunc: predicting protein function using heterogeneous data sources","volume":"40","author":"Wass","year":"2012","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.blre.2016.07.001_bb0180","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1038\/nprot.2010.5","article-title":"I-TASSER: a unified platform for automated protein structure and function prediction","volume":"5","author":"Roy","year":"2010","journal-title":"Nat Protoc"},{"key":"10.1016\/j.blre.2016.07.001_bb0185","doi-asserted-by":"crossref","first-page":"2588","DOI":"10.1093\/bioinformatics\/btt447","article-title":"Protein-ligand binding site recognition using complementary binding-specific substructure comparison and sequence profile alignment","volume":"29","author":"Yang","year":"2013","journal-title":"Bioinformatics"},{"key":"10.1016\/j.blre.2016.07.001_bb0190","doi-asserted-by":"crossref","first-page":"D808","DOI":"10.1093\/nar\/gks1094","article-title":"STRING v9.1: protein\u2013protein interaction networks, with increased coverage and integration","volume":"41","author":"Franceschini","year":"2013","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.blre.2016.07.001_bb0195","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","author":"Kumar","year":"2009","journal-title":"Nat Protoc"},{"key":"10.1016\/j.blre.2016.07.001_bb0200","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"10.1016\/j.blre.2016.07.001_bb0205","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1016\/S0022-2836(02)00813-6","article-title":"Evaluation of structural and evolutionary contributions to deleterious mutation prediction","volume":"322","author":"Saunders","year":"2002","journal-title":"J Mol Biol"},{"key":"10.1016\/j.blre.2016.07.001_bb0210","doi-asserted-by":"crossref","first-page":"1551","DOI":"10.1038\/nprot.2013.092","article-title":"Large-scale gene function analysis with the PANTHER classification system","volume":"8","author":"Mi","year":"2013","journal-title":"Nat Protoc"},{"key":"10.1016\/j.blre.2016.07.001_bb0215","doi-asserted-by":"crossref","first-page":"2397","DOI":"10.1093\/bioinformatics\/btn435","article-title":"SNAP predicts effect of mutations on protein function","volume":"24","author":"Bromberg","year":"2008","journal-title":"Bioinformatics"},{"key":"10.1016\/j.blre.2016.07.001_bb0220","doi-asserted-by":"crossref","first-page":"1237","DOI":"10.1002\/humu.21047","article-title":"Functional annotations improve the predictive score of human disease-related mutations in proteins","volume":"30","author":"Calabrese","year":"2009","journal-title":"Hum Mutat"},{"key":"10.1016\/j.blre.2016.07.001_bb0225","doi-asserted-by":"crossref","first-page":"2744","DOI":"10.1093\/bioinformatics\/btp528","article-title":"Automated inference of molecular mechanisms of disease from amino acid substitutions","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.blre.2016.07.001_bb0230","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nat Genet"},{"key":"10.1016\/j.blre.2016.07.001_bb0235","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat Methods"},{"key":"10.1016\/j.blre.2016.07.001_bb0240","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gkp215","article-title":"Human Splicing Finder: an online bioinformatics tool to predict splicing signals","volume":"37","author":"Desmet","year":"2009","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.blre.2016.07.001_bb0245","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1089\/1066527041410418","article-title":"Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals","volume":"11","author":"Yeo","year":"2004","journal-title":"J Comput Biol"},{"key":"10.1016\/j.blre.2016.07.001_bb0250","first-page":"1113","article-title":"Rare and unexpected mutations among Iranian beta-thalassemia patients and prenatal samples discovered by reverse-hybridization and DNA sequencing","volume":"87","author":"Najmabadi","year":"2002","journal-title":"Haematologica"},{"key":"10.1016\/j.blre.2016.07.001_bb0255","first-page":"41","article-title":"Associations of red blood corpuscle mean volume and hematocrit with severity of beta-globin gene mutations in beta-thalassemia carriers","volume":"8","author":"Behfar","year":"2011","journal-title":"J Sch Public Health Inst Public Health Res"},{"key":"10.1016\/j.blre.2016.07.001_bb0260","doi-asserted-by":"crossref","first-page":"4321","DOI":"10.1007\/s11033-010-0557-5","article-title":"Molecular characterization of beta-thalassemia intermedia: a report from Iran","volume":"38","author":"Arab","year":"2011","journal-title":"Mol Biol Rep"},{"key":"10.1016\/j.blre.2016.07.001_bb0265","first-page":"255","article-title":"Survey of prevalence of beta-globin gene mutations of beta thalassemia in province of Ghazven","volume":"6","author":"Tafazoli","year":"2005","journal-title":"Koomesh"},{"key":"10.1016\/j.blre.2016.07.001_bb0270","article-title":"Rare and unexpected beta thalassemic mutations in Qazvin Province of Iran","volume":"16","author":"Sarookhani","year":"2009","journal-title":"Razi J Med Sci"},{"key":"10.1016\/j.blre.2016.07.001_bb0275","first-page":"448","article-title":"Detection of eight common \u03b2-globin gene mutation in thalassemia major patients using real time polymerase chain reaction (PCR)-high resolution melting and EvaGreen\u2122 dye","volume":"11","author":"Marashi","year":"2012","journal-title":"Afr J Biotechnol"},{"key":"10.1016\/j.blre.2016.07.001_bb0280","first-page":"106","article-title":"The spectrum of \u03b2-thalassemia mutations in Isfahan Province of Iran","volume":"37","author":"Derakhshandeh-Peykar","year":"2008","journal-title":"Iran J Public Health"},{"key":"10.1016\/j.blre.2016.07.001_bb0285","doi-asserted-by":"crossref","first-page":"115","DOI":"10.3109\/03630260903554894","article-title":"Identification of three novel mutations [\u221241 (A>C), codon 24 (\u2212G), and IVS-I-109 (\u2212T)], in a study of beta-thalassemia alleles in the Isfahan region of Iran","volume":"34","author":"Salehi","year":"2010","journal-title":"Hemoglobin"},{"key":"10.1016\/j.blre.2016.07.001_bb0290","doi-asserted-by":"crossref","first-page":"331","DOI":"10.3109\/03630269.2011.601385","article-title":"beta-Thalassemia mutations found during 1year of prenatal diagnoses in Fars Province, Iran","volume":"35","author":"Rahiminejad","year":"2011","journal-title":"Hemoglobin"},{"key":"10.1016\/j.blre.2016.07.001_bb0295","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1016\/j.jacl.2011.12.005","article-title":"Genotype\u2013phenotype correlation related to lipid profile in beta-thalassemia major and intermedia in southern Iran","volume":"6","author":"Bordbar","year":"2012","journal-title":"J Clin Lipidol"},{"key":"10.1016\/j.blre.2016.07.001_bb0300","first-page":"70","article-title":"Thalassemic mutations in southern Iran","volume":"31","author":"Rahimi","year":"2006","journal-title":"Iran J Med Sci"},{"key":"10.1016\/j.blre.2016.07.001_bb0305","first-page":"69","article-title":"Distribution of beta-globin gene mutations in thalassemia minor population of Kerman Province, Iran","volume":"39","author":"Saleh-Gohari","year":"2010","journal-title":"Iran J Public Health"},{"key":"10.1016\/j.blre.2016.07.001_bb0310","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1080\/03630260802508327","article-title":"Prenatal diagnosis for beta-thalassemia major in the Iranian province of Hormozgan","volume":"32","author":"Nikuei","year":"2008","journal-title":"Hemoglobin"},{"key":"10.1016\/j.blre.2016.07.001_bb0315","first-page":"49","article-title":"The spectrum of mutations in 100 thalassemic carriers referred to Ghaem Hospital of Mashhad","volume":"2","author":"Hamzehloei","year":"2012","journal-title":"Iran J Ped Hematol Oncol"},{"key":"10.1016\/j.blre.2016.07.001_bb0320","doi-asserted-by":"crossref","first-page":"456","DOI":"10.3109\/03630269.2012.712928","article-title":"Profile of beta-thalassemia and its prenatal diagnosis in Khorasan-e-Jonobi Province, Iran","volume":"36","author":"Miri-Moghaddam","year":"2012","journal-title":"Hemoglobin"},{"key":"10.1016\/j.blre.2016.07.001_bb0325","first-page":"105","article-title":"Molecular basis and prenatal diagnosis of B-thalassemia in southeast if Iran","volume":"15","author":"Miri Moghadam","year":"2005","journal-title":"J Mazandaran Univ Med Sci"},{"key":"10.1016\/j.blre.2016.07.001_bb0330","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1080\/03630260701758932","article-title":"An unusually frequent beta-thalassemia mutation in an Iranian province","volume":"32","author":"Eshghi","year":"2008","journal-title":"Hemoglobin"},{"key":"10.1016\/j.blre.2016.07.001_bb0335","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1002\/pd.2767","article-title":"Molecular basis and prenatal diagnosis of beta-thalassemia among Balouch population in Iran","volume":"31","author":"Miri-Moghaddam","year":"2011","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.blre.2016.07.001_bb0340","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1080\/03630260701462030","article-title":"Distribution of beta-thalassemia mutations in the northern provinces of Iran","volume":"31","author":"Derakhshandeh-Peykar","year":"2007","journal-title":"Hemoglobin"},{"key":"10.1016\/j.blre.2016.07.001_bb0345","first-page":"32","article-title":"Beta thalassemia gene mutations in thalassemic patients referred to Boo Ali Sina Hospital o Sari in the year 1373","volume":"9","author":"Modjtahed zadeh","year":"1999","journal-title":"J Mazandaran Univ Med Sci"},{"key":"10.1016\/j.blre.2016.07.001_bb0350","first-page":"17","article-title":"Frequency of beta-globin gene mutations in beta-thalassemia patients from east of Mazandaran","volume":"18","author":"Hashemi Soteh","year":"2008","journal-title":"J Mazandaran Univ Med Sci"},{"key":"10.1016\/j.blre.2016.07.001_bb0355","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.bcmd.2011.03.005","article-title":"A comprehensive molecular characterization of beta thalassemia in a highly heterogeneous population","volume":"47","author":"Akhavan-Niaki","year":"2011","journal-title":"Blood Cells Mol Dis"},{"key":"10.1016\/j.blre.2016.07.001_bb0360","first-page":"17","article-title":"Frequency of beta-globin gene mutations in beta-carrier couples in Babolsar, Iran, 2001\u20132011","volume":"23","author":"Valizadeh","year":"2014","journal-title":"J Mazandaran Univ Med Sci"},{"key":"10.1016\/j.blre.2016.07.001_bb0365","article-title":"Common B-thalassemia mutations in northwestern Iran","volume":"12","author":"Hossein Pour Feizi","year":"2005","journal-title":"J Shahid Sadoughi Univ Med Sci"},{"key":"10.1016\/j.blre.2016.07.001_bb0370","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1080\/03630260802004145","article-title":"Molecular spectrum of beta-thalassemia mutations in northwestern Iran","volume":"32","author":"Hosseinpour Feizi","year":"2008","journal-title":"Hemoglobin"},{"key":"10.1016\/j.blre.2016.07.001_bb0375","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1080\/03630260902862020","article-title":"Beta-thalassemia mutations in the Iranian Kurdish population of Kurdistan and West Azerbaijan provinces","volume":"33","author":"Haghi","year":"2009","journal-title":"Hemoglobin"},{"key":"10.1016\/j.blre.2016.07.001_bb0380","first-page":"11","article-title":"Beta thalassemia trait in Sanandaj","volume":"4","author":"Yousefi","year":"1997","journal-title":"Sci J Kurdistan Univ Med Sci"},{"key":"10.1016\/j.blre.2016.07.001_bb0385","first-page":"21","article-title":"Common beta-thalassemia mutations in the city of Sanandaj","volume":"3","author":"Fathollah-pour","year":"2003","journal-title":"Sci J Kurdistan Univ Med Sci"},{"key":"10.1016\/j.blre.2016.07.001_bb0390","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1007\/s11033-009-9560-0","article-title":"Detection of responsible mutations for beta thalassemia in the Kermanshah Province of Iran using PCR-based techniques","volume":"37","author":"Rahimi","year":"2010","journal-title":"Mol Biol Rep"},{"key":"10.1016\/j.blre.2016.07.001_bb0395","doi-asserted-by":"crossref","first-page":"544","DOI":"10.3109\/03630269.2013.814036","article-title":"The spectrum of beta-thalassemia mutations in Kermanshah Province in west Iran and its association with hematological parameters","volume":"37","author":"Mehrabi","year":"2013","journal-title":"Hemoglobin"},{"key":"10.1016\/j.blre.2016.07.001_bb0400","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1080\/03630260701459382","article-title":"The molecular analysis of beta-thalassemia mutations in Lorestan Province, Iran","volume":"31","author":"Kiani","year":"2007","journal-title":"Hemoglobin"},{"key":"10.1016\/j.blre.2016.07.001_bb0405","first-page":"17","article-title":"The frequency of common beta-thalassemia mutations among couples referred to health centers of Ilam during a five years period","volume":"22","author":"Sharifi","year":"2014","journal-title":"J Ilam Univ Med Sci"},{"key":"10.1016\/j.blre.2016.07.001_bb0410","first-page":"89","article-title":"Molecular studies on beta-thalassemia mutations in Bushehr Province","volume":"2","author":"Khodaei","year":"2001","journal-title":"Iran South Med J"},{"key":"10.1016\/j.blre.2016.07.001_bb0415","doi-asserted-by":"crossref","first-page":"101","DOI":"10.4103\/0019-5359.49286","article-title":"Microcytic hypochromic anemia patients with thalassemia: genotyping approach","volume":"63","author":"Rahim","year":"2009","journal-title":"Indian J Med Sci"},{"key":"10.1016\/j.blre.2016.07.001_bb0420","first-page":"17","article-title":"Prenatal diagnosis of different polymorphisms of beta-globin gene in Ahvaz","volume":"7","author":"Dehghanifard","year":"2013","journal-title":"Int J Hematol Oncol Stem Cell Res"},{"key":"10.1016\/j.blre.2016.07.001_bb0425","doi-asserted-by":"crossref","first-page":"461","DOI":"10.3109\/03630269.2010.514153","article-title":"Comprehensive spectrum of the beta-thalassemia mutations in Khuzestan, southwest Iran","volume":"34","author":"Galehdari","year":"2010","journal-title":"Hemoglobin"},{"key":"10.1016\/j.blre.2016.07.001_bb0430","first-page":"4","article-title":"Wide spectrum of mutations in the beta globin gene cause beta thalassemia major in southwest Iran","volume":"2","author":"Galehdari","year":"2010","journal-title":"Iran J Pediatr Soc"},{"key":"10.1016\/j.blre.2016.07.001_bb0435","first-page":"398","article-title":"Investigation of common mutations of beta globin gene among thalassemia majors using RDB in Khuzestan Province","volume":"6","author":"Mohammadi-Asl","year":"2007","journal-title":"Jundishapur Sci M J"},{"key":"10.1016\/j.blre.2016.07.001_bb0440","first-page":"2868","article-title":"Study of beta-globin chain mutations in patients with beta thalassemia trait among different racial groups in Khouzestan Province","volume":"10","author":"Hosseini","year":"2013"},{"key":"10.1016\/j.blre.2016.07.001_bb0445","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1136\/jmg.31.3.209","article-title":"Thalassaemia in Azerbaijan","volume":"31","author":"Kuliev","year":"1994","journal-title":"J Med Genet"},{"key":"10.1016\/j.blre.2016.07.001_bb0450","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1002\/humu.1380020218","article-title":"The spectrum of beta-thalassemia mutations in Azerbaijan","volume":"2","author":"Tagiev","year":"1993","journal-title":"Hum Mutat"},{"key":"10.1016\/j.blre.2016.07.001_bb0455","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1007\/BF00220470","article-title":"Molecular characterization of beta-thalassemia in Azerbaijan","volume":"90","author":"Curuk","year":"1992","journal-title":"Hum Genet"},{"key":"10.1016\/j.blre.2016.07.001_bb0460","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1007\/BF00220549","article-title":"The molecular basis of beta-thalassemia in Turkey","volume":"89","author":"Basak","year":"1992","journal-title":"Hum Genet"},{"key":"10.1016\/j.blre.2016.07.001_bb0465","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1002\/(SICI)1096-8652(199803)57:3<215::AID-AJH6>3.0.CO;2-Y","article-title":"Molecular and population genetic analyses of beta-thalassemia in Turkey","volume":"57","author":"Tadmouri","year":"1998","journal-title":"Am J Hematol"},{"key":"10.1016\/j.blre.2016.07.001_bb0470","doi-asserted-by":"crossref","first-page":"411","DOI":"10.5114\/aoms.2012.28811","article-title":"Beta-thalassemia mutations and hemoglobinopathies in Adana, Turkey: results from a single center study","volume":"8","author":"Guvenc","year":"2012","journal-title":"Arch Med Sci"},{"key":"10.1016\/j.blre.2016.07.001_bb0475","article-title":"Prenatal diagnosis of \u03b2-thalassemia in the Antalya Province","volume":"354","author":"Keser","year":"2005","journal-title":"Turk J Med Sci"},{"key":"10.1016\/j.blre.2016.07.001_bb0480","doi-asserted-by":"crossref","DOI":"10.4084\/mjhid.2013.055","article-title":"Beta-globin gene mutations in Turkish children with beta-thalassemia: results from a single center study","volume":"5","author":"Fettah","year":"2013","journal-title":"Mediterr J Hematol Infect Dis"},{"key":"10.1016\/j.blre.2016.07.001_bb0485","doi-asserted-by":"crossref","first-page":"262853","DOI":"10.1155\/2014\/262853","article-title":"beta -thalassemia intermedia in Northern Iraq: a single center experience","volume":"2014","author":"Al-Allawi","year":"2014","journal-title":"Biomed Res Int"},{"key":"10.1016\/j.blre.2016.07.001_bb0490","first-page":"90","article-title":"Molecular characterization of beta-thalassemia mutations in Baghdad","volume":"23","author":"Abdelaziz Omer","year":"2010","journal-title":"Iraqi J Comm Med"},{"key":"10.1016\/j.blre.2016.07.001_bb0495","doi-asserted-by":"crossref","first-page":"124","DOI":"10.33899\/mmed.2009.8846","article-title":"Molecular characterization of beta-thalassemia mutations in Ninawa governorate","volume":"35","author":"Abdelaziz Omer","year":"2009","journal-title":"Ann Coll Med"},{"key":"10.1016\/j.blre.2016.07.001_bb0500","doi-asserted-by":"crossref","first-page":"444","DOI":"10.3109\/03630269.2013.810641","article-title":"The spectrum of beta-thalassemia mutations in Baghdad, Central Iraq","volume":"37","author":"Al-Allawi","year":"2013","journal-title":"Hemoglobin"},{"key":"10.1016\/j.blre.2016.07.001_bb0505","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1080\/03630260600868097","article-title":"Molecular characterization of beta-thalassemia in the Dohuk region of Iraq","volume":"30","author":"Al-Allawi","year":"2006","journal-title":"Hemoglobin"},{"issue":"Suppl. 1","key":"10.1016\/j.blre.2016.07.001_bb0510","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1159\/000086186","article-title":"Mutations associated with beta-thalassemia intermedia in Kuwait","volume":"14","author":"Adekile","year":"2005","journal-title":"Med Princ Pract"},{"key":"10.1016\/j.blre.2016.07.001_bb0515","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1159\/000204216","article-title":"Molecular characterization of alpha-thalassemia determinants, beta-thalassemia alleles, and beta S haplotypes among Kuwaiti Arabs","volume":"92","author":"Adekile","year":"1994","journal-title":"Acta Haematol"},{"key":"10.1016\/j.blre.2016.07.001_bb0520","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1159\/000154314","article-title":"Molecular defects in beta-thalassaemias in the population of Saudi Arabia","volume":"45","author":"el-Hazmi","year":"1995","journal-title":"Hum Hered"},{"key":"10.1016\/j.blre.2016.07.001_bb0525","first-page":"935","article-title":"Identification and clinical presentation of beta thalassaemia mutations in the eastern region of Saudi Arabia","volume":"36","author":"El-Harth","year":"1999","journal-title":"J Med Genet"},{"key":"10.1016\/j.blre.2016.07.001_bb0530","doi-asserted-by":"crossref","first-page":"346","DOI":"10.3109\/03630269.2011.588508","article-title":"Molecular basis of beta-thalassemia in the western province of Saudi Arabia: identification of rare beta-thalassemia mutations","volume":"35","author":"Abuzenadah","year":"2011","journal-title":"Hemoglobin"},{"key":"10.1016\/j.blre.2016.07.001_bb0535","doi-asserted-by":"crossref","first-page":"125","DOI":"10.3109\/03630269.2011.553567","article-title":"Spectrum of beta-thalassemia mutations in the eastern province of Saudi Arabia","volume":"35","author":"Al-Sultan","year":"2011","journal-title":"Hemoglobin"},{"key":"10.1016\/j.blre.2016.07.001_bb0540","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1155\/JBB.2005.322","article-title":"Molecular bases of beta-thalassemia in the eastern province of Saudi Arabia","volume":"2005","author":"Al-Ali","year":"2005","journal-title":"J Biomed Biotechnol"},{"key":"10.1016\/j.blre.2016.07.001_bb0545","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1080\/03630260701288815","article-title":"Molecular basis of thalassemia in Qatar","volume":"31","author":"Al-Obaidli","year":"2007","journal-title":"Hemoglobin"},{"key":"10.1016\/j.blre.2016.07.001_bb0550","doi-asserted-by":"crossref","first-page":"237","DOI":"10.3109\/03630269708997384","article-title":"A significant beta-thalassemia heterogeneity in the United Arab Emirates","volume":"21","author":"el-Kalla","year":"1997","journal-title":"Hemoglobin"},{"key":"10.1016\/j.blre.2016.07.001_bb0555","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1136\/jmg.31.1.59","article-title":"The spectrum of beta thalassaemia mutations in the UAE national population","volume":"31","author":"Quaife","year":"1994","journal-title":"J Med Genet"},{"key":"10.1016\/j.blre.2016.07.001_bb0560","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1111\/j.1749-6632.1998.tb10505.x","article-title":"Molecular basis of beta-thalassemia in Bahrain: an epicenter for a Middle East specific mutation","volume":"850","author":"Jassim","year":"1998","journal-title":"Ann N Y Acad Sci"},{"key":"10.1016\/j.blre.2016.07.001_bb0565","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1111\/j.1749-6632.1998.tb10504.x","article-title":"Spectrum of beta-thalassemia mutations in Oman","volume":"850","author":"Daar","year":"1998","journal-title":"Ann N Y Acad Sci"},{"key":"10.1016\/j.blre.2016.07.001_bb0570","doi-asserted-by":"crossref","first-page":"27","DOI":"10.18295\/2075-0528.2615","article-title":"Diagnosis of beta-thalassaemia carriers in the Sultanate of Oman","volume":"6","author":"Daar","year":"2006","journal-title":"Sultan Qaboos Univ Med J"},{"key":"10.1016\/j.blre.2016.07.001_bb0575","doi-asserted-by":"crossref","DOI":"10.1016\/j.bcmd.2014.05.002","article-title":"Molecular diagnostics of the HBB gene in an Omani cohort using bench-top DNA ion torrent PGM technology","author":"Hassan","year":"2014","journal-title":"Blood Cells Mol Dis"},{"key":"10.1016\/j.blre.2016.07.001_bb0580","first-page":"403","article-title":"Molecular epidemiology of beta-thalassemia in Pakistan: far reaching implications","volume":"2","author":"Ansari","year":"2011","journal-title":"Int J Mol Epidemiol Genet"},{"key":"10.1016\/j.blre.2016.07.001_bb0585","first-page":"ELT02","article-title":"Spectrum of beta-thalassemia mutations in various regions of Punjab and Islamabad, Pakistan: establishment of prenatal diagnosis","volume":"91","author":"Baig","year":"2006","journal-title":"Haematologica"},{"key":"10.1016\/j.blre.2016.07.001_bb0590","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1097\/MPH.0b013e31823752f3","article-title":"Beta-thalassemia in Pakistan: a pilot program on prenatal diagnosis in Multan","volume":"34","author":"Mahmood Baig","year":"2012","journal-title":"J Pediatr Hematol Oncol"},{"key":"10.1016\/j.blre.2016.07.001_bb0595","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1007\/s12185-012-1036-7","article-title":"Prenatal screening for beta-thalassemia major reveals new and rare mutations in the Pakistani population","volume":"95","author":"Moatter","year":"2012","journal-title":"Int J Hematol"},{"key":"10.1016\/j.blre.2016.07.001_bb0600","doi-asserted-by":"crossref","first-page":"972","DOI":"10.26719\/2010.16.9.972","article-title":"Molecular genetics of beta-thalassaemia syndrome in Pakistan","volume":"16","author":"Usman","year":"2010","journal-title":"East Mediterr Health J"},{"key":"10.1016\/j.blre.2016.07.001_bb0605","doi-asserted-by":"crossref","first-page":"3375","DOI":"10.1093\/nar\/gkm251","article-title":"LOMETS: a local meta-threading-server for protein structure prediction","volume":"35","author":"Wu","year":"2007","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.blre.2016.07.001_bb0610","doi-asserted-by":"crossref","first-page":"W471","DOI":"10.1093\/nar\/gks372","article-title":"COFACTOR: an accurate comparative algorithm for structure-based protein function annotation","volume":"40","author":"Roy","year":"2012","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.blre.2016.07.001_bb0615","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1186\/1471-2105-9-40","article-title":"I-TASSER server for protein 3D structure prediction","volume":"9","author":"Zhang","year":"2008","journal-title":"BMC Bioinf."},{"key":"10.1016\/j.blre.2016.07.001_bb0620","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/j.bbrc.2010.10.021","article-title":"Unexpected heterogeneity due to recessive and de novo dominant mutations of GJB2 in an Iranian family with nonsyndromic hearing loss: implication for genetic counseling","volume":"402","author":"Mahdieh","year":"2010","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.blre.2016.07.001_bb0625","doi-asserted-by":"crossref","first-page":"1089","DOI":"10.1016\/j.ijporl.2010.06.005","article-title":"High level of intrafamilial phenotypic variability of non-syndromic hearing loss in a Lur family due to delE120 mutation in GJB2 gene","volume":"74","author":"Mahdieh","year":"2010","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"10.1016\/j.blre.2016.07.001_bb0630","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1089\/gtmb.2010.0145","article-title":"Impact of consanguineous marriages in GJB2-related hearing loss in the Iranian population: a report of a novel variant","volume":"15","author":"Mahdieh","year":"2011","journal-title":"Genet Test Mol Biomarkers"},{"key":"10.1016\/j.blre.2016.07.001_bb0635","first-page":"49","article-title":"The frequency of eight common point mutations in CYP21 gene in Iranian patients with congenital adrenal hyperplasia","volume":"12","author":"Ramazani","year":"2008","journal-title":"Iran Biomed J"},{"key":"10.1016\/j.blre.2016.07.001_bb0640","doi-asserted-by":"crossref","first-page":"1610","DOI":"10.1016\/j.ijporl.2012.07.030","article-title":"Screening of OTOF mutations in Iran: a novel mutation and review","volume":"76","author":"Mahdieh","year":"2012","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"10.1016\/j.blre.2016.07.001_bb0645","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1038\/302591a0","article-title":"Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes","volume":"302","author":"Treisman","year":"1983","journal-title":"Nature"},{"key":"10.1016\/j.blre.2016.07.001_bb0650","first-page":"476","article-title":"Molecular genetics of beta-thalassaemia in Pakistan: a basis for prenatal diagnosis","volume":"94","author":"Ahmed","year":"1996","journal-title":"Br J Haematol"},{"key":"10.1016\/j.blre.2016.07.001_bb0655","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1007\/s11568-010-9132-3","article-title":"Profiling beta-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes","volume":"3","author":"Sinha","year":"2009","journal-title":"HUGO J"},{"key":"10.1016\/j.blre.2016.07.001_bb0660","doi-asserted-by":"crossref","first-page":"469","DOI":"10.3109\/01676830.2010.513591","article-title":"Beta-thalassemia mutations in the Kurdish population of northeastern Iraq","volume":"34","author":"Jalal","year":"2010","journal-title":"Hemoglobin"},{"key":"10.1016\/j.blre.2016.07.001_bb0665","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1007\/s12687-010-0026-9","article-title":"A descriptive profile of beta-thalassaemia mutations in India, Pakistan and Sri Lanka","volume":"1","author":"Black","year":"2010","journal-title":"J Community Genet"},{"key":"10.1016\/j.blre.2016.07.001_bb0670","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1002\/humu.1380050409","article-title":"Analysis of beta-thalassemia mutations in the United Arab Emirates provides evidence for recurrent origin of the IVSI nt 5 (G-C) mutation","volume":"5","author":"De Leo","year":"1995","journal-title":"Hum Mutat"},{"key":"10.1016\/j.blre.2016.07.001_bb0675","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3109\/03630269009002250","article-title":"Beta-thalassemia in Turkey","volume":"14","author":"Oner","year":"1990","journal-title":"Hemoglobin"},{"key":"10.1016\/j.blre.2016.07.001_bb0680","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1080\/03630260802341778","article-title":"Hematological phenotype of the IVS-I-5 (G>C) beta-thalassemia mutation and assessment of Iran's national screening criteria","volume":"32","author":"Eshghi","year":"2008","journal-title":"Hemoglobin"},{"key":"10.1016\/j.blre.2016.07.001_bb0685","doi-asserted-by":"crossref","first-page":"2455","DOI":"10.1073\/pnas.78.4.2455","article-title":"Base substitution in an intervening sequence of a beta+-thalassemic human globin gene","volume":"78","author":"Spritz","year":"1981","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.blre.2016.07.001_bb0690","doi-asserted-by":"crossref","first-page":"1777","DOI":"10.1093\/nar\/9.8.1777","article-title":"An intron nucleotide sequence variant in a cloned beta+-thalassaemia globin gene","volume":"9","author":"Westaway","year":"1981","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.blre.2016.07.001_bb0695","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1111\/j.1365-2141.1992.tb03000.x","article-title":"The beta-thalassaemia mutations in the population of Cyprus","volume":"81","author":"Baysal","year":"1992","journal-title":"Br J Haematol"},{"key":"10.1016\/j.blre.2016.07.001_bb0700","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1080\/03630260601056726","article-title":"Thalassemias and other hemoglobinopathies in the Republic of Macedonia","volume":"31","author":"Efremov","year":"2007","journal-title":"Hemoglobin"},{"key":"10.1016\/j.blre.2016.07.001_bb0705","first-page":"55","article-title":"Beta zero and beta+ thalassemia genes in northern Greece","volume":"5","author":"Koliakos","year":"1991","journal-title":"Gene Geogr"},{"key":"10.1016\/j.blre.2016.07.001_bb0710","doi-asserted-by":"crossref","first-page":"509","DOI":"10.3109\/08880019409141689","article-title":"Hematologic phenotype of the mutations IVS1-n6 (T\u2192C), IVS1-n110 (G\u2192A), and CD39 (C\u2192T) in carriers of beta-thalassemia in Greece","volume":"11","author":"Stefanis","year":"1994","journal-title":"Pediatr Hematol Oncol"},{"key":"10.1016\/j.blre.2016.07.001_bb0715","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1007\/BF00210607","article-title":"Sickle cell anemia, sickle cell beta-thalassemia, and thalassemia major in Albania: characterization of mutations","volume":"93","author":"Boletini","year":"1994","journal-title":"Hum Genet"},{"key":"10.1016\/j.blre.2016.07.001_bb0720","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1016\/j.clinbiochem.2005.03.002","article-title":"Spectrum of beta-thalassemia mutations in North Indian states: a beta-thalassemia trait with two mutations in cis","volume":"38","author":"Chakrabarti","year":"2005","journal-title":"Clin Biochem"},{"key":"10.1016\/j.blre.2016.07.001_bb0725","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1038\/35066048","article-title":"Phenotype\u2013genotype relationships in monogenic disease: lessons from the thalassaemias","volume":"2","author":"Weatherall","year":"2001","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.blre.2016.07.001_bb0730","doi-asserted-by":"crossref","first-page":"7249","DOI":"10.1016\/S0021-9258(18)32165-3","article-title":"Inactivation of an acceptor RNA splice site by a short deletion in beta-thalassemia","volume":"258","author":"Orkin","year":"1983","journal-title":"J Biol Chem"},{"key":"10.1016\/j.blre.2016.07.001_bb0735","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1007\/s00335-007-9040-6","article-title":"Moving toward a system genetics view of disease","volume":"18","author":"Sieberts","year":"2007","journal-title":"Mamm Genome"},{"key":"10.1016\/j.blre.2016.07.001_bb0740","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1007\/978-1-4939-2155-3_2","article-title":"Finding the epistasis needles in the genome-wide haystack","volume":"1253","author":"Ritchie","year":"2015","journal-title":"Methods Mol Biol"},{"issue":"10","key":"10.1016\/j.blre.2016.07.001_bb0745","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0025876","article-title":"In silico analysis of single nucleotide polymorphism (SNPs) in human beta-globin gene","volume":"6","author":"Alanazi","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.blre.2016.07.001_bb0750","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1016\/j.cell.2004.11.010","article-title":"Systematic identification and analysis of exonic splicing silencers","volume":"119","author":"Wang","year":"2004","journal-title":"Cell"},{"key":"10.1016\/j.blre.2016.07.001_bb0755","doi-asserted-by":"crossref","first-page":"373859","DOI":"10.1155\/2011\/373859","article-title":"Alpha-hemoglobin-stabilizing protein: an erythroid molecular chaperone","volume":"2011","author":"Favero","year":"2011","journal-title":"Biochem Res Int"},{"key":"10.1016\/j.blre.2016.07.001_bb0760","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1038\/ng.496","article-title":"Preferential associations between co-regulated genes reveal a transcriptional interactome in erythroid cells","volume":"42","author":"Schoenfelder","year":"2010","journal-title":"Nat Genet"}],"container-title":["Blood Reviews"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0268960X16300443?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0268960X16300443?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,6,4]],"date-time":"2025-06-04T01:41:41Z","timestamp":1749001301000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0268960X16300443"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,11]]},"references-count":152,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2016,11]]}},"alternative-id":["S0268960X16300443"],"URL":"https:\/\/doi.org\/10.1016\/j.blre.2016.07.001","relation":{},"ISSN":["0268-960X"],"issn-type":[{"value":"0268-960X","type":"print"}],"subject":[],"published":{"date-parts":[[2016,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Beta thalassemia in 31,734 cases with HBB gene mutations: Pathogenic and structural analysis of the common mutations; Iran as the crossroads of the Middle East","name":"articletitle","label":"Article Title"},{"value":"Blood Reviews","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.blre.2016.07.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}