{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T02:17:14Z","timestamp":1792462634875,"version":"4.5.0"},"reference-count":56,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2001,3,1]],"date-time":"2001-03-01T00:00:00Z","timestamp":983404800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2001,3,1]],"date-time":"2001-03-01T00:00:00Z","timestamp":983404800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2001,3,1]]},"DOI":"10.1038\/sj.ejhg.5200610","type":"journal-article","created":{"date-parts":[[2002,9,18]],"date-time":"2002-09-18T22:07:40Z","timestamp":1032386860000},"page":"217-225","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":40,"title":["Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects"],"prefix":"10.1038","volume":"9","author":[{"given":"Sharon W","family":"Horsley","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachael J","family":"Daniels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"Anguita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen A","family":"Raynham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John F","family":"Peden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Villegas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark A","family":"Vickers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Green","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John S","family":"Waye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David HK","family":"Chui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena","family":"Ayyub","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela B","family":"MacCarthy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronica J","family":"Buckle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J","family":"Gibbons","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lyndal","family":"Kearney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas R","family":"Higgs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2001,4,11]]},"reference":[{"key":"BF5200610_CR1","doi-asserted-by":"publisher","first-page":"1657","DOI":"10.1093\/hmg\/6.10.1657","volume":"6","author":"ML Budarf","year":"1997","unstructured":"Budarf ML, Emanuel BS . Progress in the autosomal segmental aneusomy syndromes (SASs): single or multi-locus disorders? Hum Mol Genet 1997 6: 1657\u20131665.","journal-title":"Hum Mol Genet"},{"key":"BF5200610_CR2","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1038\/ng0797-243","volume":"16","author":"L Li","year":"1997","unstructured":"Li L, Krantz ID, Deng Y et al. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 1997 16: 243\u2013251.","journal-title":"Nat Genet"},{"key":"BF5200610_CR3","doi-asserted-by":"publisher","first-page":"1611","DOI":"10.1093\/hmg\/7.10.1611","volume":"7","author":"DJ Kleinjan","year":"1998","unstructured":"Kleinjan DJ, van Heyningen V . Position effect in human genetic disease. Hum Mol Genet 1998 7: 1611\u20131618.","journal-title":"Hum Mol Genet"},{"key":"BF5200610_CR4","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1146\/annurev.genet.30.1.173","volume":"30","author":"M Lalande","year":"1997","unstructured":"Lalande M . Parental imprinting and human disease. Annu Rev Genet 1997 30: 173\u2013195.","journal-title":"Annu Rev Genet"},{"key":"BF5200610_CR5","doi-asserted-by":"publisher","first-page":"1219","DOI":"10.5858\/1999-123-1219-AOOGFI","volume":"123","author":"IC Ozturk","year":"1999","unstructured":"Ozturk IC, Killeen AA . An overview of genetic factors influencing plasma lipid levels and coronary artery disease risk. Arch Pathol Lab Med 1999 123: 1219\u20131222.","journal-title":"Arch Pathol Lab Med"},{"key":"BF5200610_CR6","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1038\/ng0594-5","volume":"7","author":"E Fisher","year":"1994","unstructured":"Fisher E, Scambler P . Human haploinsufficiency\u2013one for sorrow, two for joy. Nat Genet 1994 7: 5\u20137.","journal-title":"Nat Genet"},{"key":"BF5200610_CR7","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1136\/jmg.31.2.89","volume":"31","author":"AOM Wilkie","year":"1994","unstructured":"Wilkie AOM . The molecular basis of genetic dominance. J Med Genet 1994 31: 89\u201398.","journal-title":"J Med Genet"},{"key":"BF5200610_CR8","doi-asserted-by":"publisher","first-page":"819","DOI":"10.1016\/S0140-6736(89)92995-4","volume":"2","author":"J Lamb","year":"1989","unstructured":"Lamb J, Wilkie AOM, Harris PC et al. Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease. Lancet 1989 2: 819\u2013824.","journal-title":"Lancet"},{"key":"BF5200610_CR9","first-page":"1112","volume":"46","author":"AOM Wilkie","year":"1990","unstructured":"Wilkie AOM, Buckle VJ, Harris PC et al. Clinical features and molecular analysis of the \u03b1 thalassaemia\/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3. Am J Hum Genet 1990 46: 1112\u20131126.","journal-title":"Am J Hum Genet"},{"key":"BF5200610_CR10","first-page":"987","volume":"52","author":"KA Rack","year":"1993","unstructured":"Rack KA, Harris PC, MacCarthy AB et al. Characterization of three de novo derivative chromosomes 16 by \u2018reverse chromosome painting\u2019 and molecular analysis. Am J Hum Genet 1993 52: 987\u2013997.","journal-title":"Am J Hum Genet"},{"key":"BF5200610_CR11","first-page":"668","volume":"52","author":"J Lamb","year":"1993","unstructured":"Lamb J, Harris PC, Wilkie AOM, Wood WG, Dauwerse JG, Higgs DR . De novo truncation of chromosome 16p and healing with (TTAGGG)n in the \u03b1-thalassemia\/mental retardation syndrome (ATR-16). Am J Hum Genet 1993 52: 668\u2013676.","journal-title":"Am J Hum Genet"},{"key":"BF5200610_CR12","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1038\/ng0397-252","volume":"15","author":"J Flint","year":"1997","unstructured":"Flint J, Thomas K, Micklem G et al. The relationship between chromosome structure and function at a human telomeric region. Nat Genet 1997 15: 252\u2013257.","journal-title":"Nat Genet"},{"key":"BF5200610_CR13","volume-title":"The Thalassaemia Syndromes.","author":"DJ Weatherall","year":"1981","unstructured":"Weatherall DJ, Clegg JB: . The Thalassaemia Syndromes. Oxford, Blackwell Scientific Publications 1981"},{"key":"BF5200610_CR14","doi-asserted-by":"crossref","unstructured":"Buckle VJ, Rack K . Fluorescent in situ hybridisation. in Davies KE (eds): Human genetic disease analysis: a practical approach. Oxford, Oxford University Press 1993 vol 2: pp 59\u201380.","DOI":"10.1093\/oso\/9780199633098.003.0004"},{"key":"BF5200610_CR15","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1159\/000484724","volume":"5","author":"SJL Knight","year":"1997","unstructured":"Knight SJL, Horsley SW, Regan R et al. Development and clinical application of an innovative fluorescence in situ hybridisation technique which detects submicroscopic rearrangements involving telomeres. Eur J Hum Genet 1997 5: 1\u20138.","journal-title":"Eur J Hum Genet"},{"key":"BF5200610_CR16","first-page":"489","volume":"1","author":"HC Zeitlin","year":"1983","unstructured":"Zeitlin HC, Weatherall DJ . Selective expression within the \u03b1-globin gene complex following chromosome dependant transfer into diploid mouse erythroleukaemia cells. Mol Biol Med 1983 1: 489\u2013500.","journal-title":"Mol Biol Med"},{"key":"BF5200610_CR17","doi-asserted-by":"publisher","first-page":"6812","DOI":"10.1073\/pnas.81.21.6812","volume":"81","author":"FS Collins","year":"1984","unstructured":"Collins FS, Weissman SM . Directional cloning of DNA fragments at a large distance from an initial probe: a circularization method. Proc Natl Acad Sci USA 1984 81: 6812\u20136816.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5200610_CR18","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1093\/genetics\/120.3.621","volume":"120","author":"H Ochman","year":"1988","unstructured":"Ochman H, Gerber AS, Hartl DL . Genetic applications of an inverse polymerase chain reaction. Genetics 1988 120: 621\u2013623.","journal-title":"Genetics"},{"key":"BF5200610_CR19","doi-asserted-by":"publisher","first-page":"8186","DOI":"10.1093\/nar\/16.16.8186","volume":"16","author":"T Triglia","year":"1988","unstructured":"Triglia T, Peterson MG, Kemp DJ . A procedure for in vitro amplification of DNA segments that lie outside the boundaries of known sequences. Nucleic Acids Res 1988 16: 8186.","journal-title":"Nucleic Acids Res"},{"key":"BF5200610_CR20","doi-asserted-by":"publisher","first-page":"3857","DOI":"10.1101\/gad.12.24.3857","volume":"12","author":"S Ch\u00e9din","year":"1998","unstructured":"Ch\u00e9din S, Riva M, Schultz P, Sentenac A, Carles C . The RNA cleavage activity of RNA polymerase III is mediated by an essential TFIIS-like subunit and is important for transcription termination. Genes Dev 1998 12: 3857\u20133871.","journal-title":"Genes Dev"},{"key":"BF5200610_CR21","doi-asserted-by":"publisher","first-page":"2425","DOI":"10.1101\/gad.13.18.2425","volume":"13","author":"P Fortes","year":"1999","unstructured":"Fortes P, Bilbao-Cort\u00e9s D, Fornerod M et al. Luc7p, a novel yeast U1 snRNP protein with a role in 5\u2032 splice site recognition. Genes Dev 1999 13: 2425\u20132438.","journal-title":"Genes Dev"},{"key":"BF5200610_CR22","doi-asserted-by":"crossref","unstructured":"Higgs DR . \u03b1-thalassaemia; in Higgs DR, Weatherall DJ (eds): Bailli\u00e8re's Clinical Haematology. International Practice and Research. The Haemoglobinopathies. London, Bailli\u00e8re Tindall 1993 vol 6: pp 117\u2013150.","DOI":"10.1016\/S0950-3536(05)80068-X"},{"key":"BF5200610_CR23","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1038\/ng0995-33","volume":"11","author":"C P\u00e1szty","year":"1995","unstructured":"P\u00e1szty C, Mohandas N, Stevens ME et al. Lethal alpha-thalassaemia created by gene targeting in mice and its genetic rescue. Nat Genet 1995 11: 33\u201339.","journal-title":"Nat Genet"},{"key":"BF5200610_CR24","doi-asserted-by":"publisher","first-page":"777","DOI":"10.1093\/genetics\/147.2.777","volume":"147","author":"TJ Vasicek","year":"1997","unstructured":"Vasicek TJ, Zeng L, Guan XJ, Zhang T, Costantini F, Tilghman SM . Two dominant mutations in the mouse fused gene are the result of transposon insertions. Genetics 1997 147: 777\u2013786.","journal-title":"Genetics"},{"key":"BF5200610_CR25","doi-asserted-by":"publisher","first-page":"5022","DOI":"10.1073\/pnas.80.16.5022","volume":"80","author":"SEY Goodbourn","year":"1983","unstructured":"Goodbourn SEY, Higgs DR, Clegg JB, Weatherall DJ . Molecular basis of length polymorphism in the human \u03b6-globin gene complex. Proc Natl Acad Sci USA 1983 80: 5022\u20135026.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5200610_CR26","doi-asserted-by":"publisher","first-page":"1857","DOI":"10.1002\/j.1460-2075.1986.tb04437.x","volume":"5","author":"AP Jarman","year":"1986","unstructured":"Jarman AP, Nicholls RD, Weatherall DJ, Clegg JB, Higgs DR . Molecular characterization of a hypervariable region downstream of the human \u03b1-globin gene cluster. EMBO J 1986 5: 1857\u20131863.","journal-title":"EMBO J"},{"key":"BF5200610_CR27","first-page":"8","volume":"42","author":"AP Jarman","year":"1988","unstructured":"Jarman AP, Higgs DR . A new hypervariable marker for the human \u03b1-globin gene cluster. Am J Hum Genet 1988 42: 8\u201316.","journal-title":"Am J Hum Genet"},{"key":"BF5200610_CR28","unstructured":"Raynham HA . The molecular basis of the ATR-16 (alpha thalassaemia\/mental retardation) syndrome. University of Oxford. DPhil 1995"},{"key":"BF5200610_CR29","doi-asserted-by":"publisher","first-page":"1163","DOI":"10.1093\/hmg\/5.8.1163","volume":"5","author":"J Flint","year":"1996","unstructured":"Flint J, Rochette J, Craddock CF et al. Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements. Hum Mol Genet 1996 5: 1163\u20131169.","journal-title":"Hum Mol Genet"},{"key":"BF5200610_CR30","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1016\/0092-8674(87)90289-3","volume":"49","author":"RD Nicholls","year":"1987","unstructured":"Nicholls RD, Fischel-Ghodsian N, Higgs DR . Recombination at the human \u03b1-globin gene cluster: sequence features and topological constraints. Cell 1987 49: 369\u2013378.","journal-title":"Cell"},{"key":"BF5200610_CR31","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1002\/pd.1970110613","volume":"11","author":"JCK Barber","year":"1991","unstructured":"Barber JCK, Mahl H, Portch J, Crawfurd MDA . Interstitial deletions without phenotypic effect: prenatal diagnosis of a new family and brief review. Prenat Diagn 1991 11: 411\u2013416.","journal-title":"Prenat Diagn"},{"key":"BF5200610_CR32","doi-asserted-by":"publisher","first-page":"994","DOI":"10.1136\/jmg.32.12.994","volume":"32","author":"LA Knight","year":"1995","unstructured":"Knight LA, Yong MH, Tan M, Ng ISL . Del(3) (p25.3) without phenotypic effect. J Med Genet 1995 32: 994\u2013995.","journal-title":"J Med Genet"},{"key":"BF5200610_CR33","doi-asserted-by":"publisher","first-page":"366","DOI":"10.1136\/jmg.33.5.366","volume":"33","author":"R Tupler","year":"1996","unstructured":"Tupler R, Berardinelli A, Barbierato L et al. Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. J Med Genet 1996 33: 366\u2013370.","journal-title":"J Med Genet"},{"key":"BF5200610_CR34","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1002\/(SICI)1096-8628(19990917)86:3<227::AID-AJMG6>3.0.CO;2-3","volume":"86","author":"A Kumar","year":"1999","unstructured":"Kumar A, Cassidy SB, Romero L, Schwartz S . Molecular cytogenetics of a de novo interstitial deletion of chromosome arm 6q in a developmentally normal girl. Am J Med Genet 1999 86: 227\u2013231.","journal-title":"Am J Med Genet"},{"key":"BF5200610_CR35","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1093\/hmg\/3.2.247","volume":"3","author":"J Overhauser","year":"1994","unstructured":"Overhauser J, Huang X, Gersh M et al. Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome. Hum Mol Genet 1994 3: 247\u2013252.","journal-title":"Hum Mol Genet"},{"key":"BF5200610_CR36","doi-asserted-by":"publisher","first-page":"1588","DOI":"10.1101\/gad.4.9.1588","volume":"4","author":"DR Higgs","year":"1990","unstructured":"Higgs DR, Wood WG, Jarman AP et al. A major positive regulatory region located far upstream of the human \u03b1-globin gene locus. Genes Dev 1990 4: 1588\u20131601.","journal-title":"Genes Dev"},{"key":"BF5200610_CR37","doi-asserted-by":"publisher","first-page":"781","DOI":"10.1016\/0092-8674(92)90290-S","volume":"69","author":"P Vyas","year":"1992","unstructured":"Vyas P, Vickers MA, Simmons DL, Ayyub H, Craddock CF, Higgs DR . Cis-acting sequences regulating expression of the human \u03b1 globin cluster lie within constitutively open chromatin. Cell 1992 69: 781\u2013793.","journal-title":"Cell"},{"key":"BF5200610_CR38","doi-asserted-by":"publisher","first-page":"1373","DOI":"10.1093\/hmg\/8.8.1373","volume":"8","author":"ZE Smith","year":"1999","unstructured":"Smith ZE, Higgs DR . The pattern of replication at a human telomeric region (16p13.3): its relationship to chromosome structure and gene expression. Hum Mol Genet 1999 8: 1373\u20131386.","journal-title":"Hum Mol Genet"},{"key":"BF5200610_CR39","volume-title":"A Syllabus of Human Hemoglobin Variants.","author":"THJ Huisman","year":"1996","unstructured":"Huisman THJ, Carver MFH, Efremov GD: . A Syllabus of Human Hemoglobin Variants. The Sickle Cell Anemia Foundation. Augusta, GA, USA 1996"},{"key":"BF5200610_CR40","doi-asserted-by":"publisher","first-page":"777","DOI":"10.1016\/S0898-6568(99)00054-6","volume":"11","author":"A Kikuchi","year":"1999","unstructured":"Kikuchi A . Roles of Axin in the Wnt signalling pathway. Cell Signal 1999 11: 777\u2013788.","journal-title":"Cell Signal"},{"key":"BF5200610_CR41","doi-asserted-by":"publisher","first-page":"4413","DOI":"10.1073\/pnas.83.12.4413","volume":"83","author":"RJ Greenspan","year":"1986","unstructured":"Greenspan RJ, O'Brien MC . Genetic analysis of mutations at the fused locus in the mouse. Proc Natl Acad Sci USA 1986 83: 4413\u20134417.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5200610_CR42","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1002\/dvg.1020110404","volume":"11","author":"AO Ruvinsky","year":"1990","unstructured":"Ruvinsky AO, Agulnik AI . Gametic imprinting and the manifestation of the Fused gene in the house mouse. Dev Genet 1990 11: 263\u2013269.","journal-title":"Dev Genet"},{"key":"BF5200610_CR43","doi-asserted-by":"publisher","first-page":"595","DOI":"10.1016\/0092-8674(91)90243-R","volume":"64","author":"AOM Wilkie","year":"1991","unstructured":"Wilkie AOM, Higgs DR, Rack KA et al. Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16. Cell 1991 64: 595\u2013606.","journal-title":"Cell"},{"key":"BF5200610_CR44","first-page":"505","volume":"55","author":"J Flint","year":"1994","unstructured":"Flint J, Craddock CF, Villegas A et al. Healing of broken human chromosomes by the addition of telomeric repeats. Am J Hum Genet 1994 55: 505\u2013512.","journal-title":"Am J Hum Genet"},{"key":"BF5200610_CR45","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1093\/nar\/23.2.256","volume":"23","author":"NS R\u00fcdiger","year":"1995","unstructured":"R\u00fcdiger NS, Gregersen N, Kielland-Brandt MC . One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi. Nucleic Acids Res 1995 23: 256\u2013260.","journal-title":"Nucleic Acids Res"},{"key":"BF5200610_CR46","doi-asserted-by":"publisher","first-page":"528","DOI":"10.1007\/s004390050401","volume":"99","author":"CL Harteveld","year":"1997","unstructured":"Harteveld CL, Losekoot M, Fodde R, Giordano PC, Bernini LF . The involvement of Alu repeats in recombination events at the \u03b1-globin gene cluster: characterization of two \u03b1o-thalassemia deletion breakpoints. Hum Genet 1997 99: 528\u2013534.","journal-title":"Hum Genet"},{"key":"BF5200610_CR47","doi-asserted-by":"publisher","first-page":"13307","DOI":"10.1073\/pnas.95.22.13307","volume":"95","author":"BE Snow","year":"1998","unstructured":"Snow BE, Krumins AM, Brothers GM et al. A G protein gamma subunit-like domain shared between RGS11 and other RGS proteins specifies binding to Gbeta5 subunits. Proc Natl Acad Sci USA 1998 95: 13307\u201313312.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5200610_CR48","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1016\/0888-7543(90)90541-2","volume":"7","author":"PC Harris","year":"1990","unstructured":"Harris PC, Barton NJ, Higgs DR, Reeders ST, Wilkie AOM . A long range restriction map between the \u03b1-globin complex and a marker closely linked to the polycystic kidney disease I (PKDI) locus. Genomics 1990 7: 195\u2013206.","journal-title":"Genomics"},{"key":"BF5200610_CR49","doi-asserted-by":"publisher","first-page":"378","DOI":"10.1111\/j.1365-2141.1992.tb08148.x","volume":"80","author":"JS Waye","year":"1992","unstructured":"Waye JS, Eng B, Chui DHK . Identification of an extensive \u03b6-\u03b1 globin gene deletion in a Chinese individual. Br J Haematol 1992 80: 378\u2013380.","journal-title":"Br J Haematol"},{"key":"BF5200610_CR50","doi-asserted-by":"publisher","first-page":"1081","DOI":"10.1182\/blood.V73.5.1081.1081","volume":"73","author":"DR Higgs","year":"1989","unstructured":"Higgs DR, Vickers MA, Wilkie AOM, Pretorius I-M, Jarman AP, Weatherall DJ . A review of the molecular genetics of the human \u03b1-globin gene cluster. Blood 1989 73: 1081\u20131104.","journal-title":"Blood"},{"key":"BF5200610_CR51","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1182\/blood.V76.1.221.221","volume":"76","author":"C Hatton","year":"1990","unstructured":"Hatton C, Wilkie AOM, Drysdale HC et al. Alpha thalassemia caused by a large (62 kb) deletion upstream of the human \u03b1 globin gene cluster. Blood 1990 76: 221\u2013227.","journal-title":"Blood"},{"key":"BF5200610_CR52","doi-asserted-by":"publisher","first-page":"1718","DOI":"10.1002\/j.1460-2075.1995.tb07161.x","volume":"14","author":"CF Craddock","year":"1995","unstructured":"Craddock CF, Vyas P, Sharpe JA, Ayyub H, Wood WG, Higgs DR . Contrasting effects of \u03b1 and \u03b2 globin regulatory elements on chromatin structure may be related to their different chromosomal environments. EMBO J 1995 14: 1718\u20131726.","journal-title":"EMBO J"},{"key":"BF5200610_CR53","doi-asserted-by":"publisher","first-page":"9431","DOI":"10.1073\/pnas.87.23.9431","volume":"81","author":"SA Liebhaber","year":"1990","unstructured":"Liebhaber SA, Griese EU, Weiss I et al. Inactivation of human \u03b1-globin gene expression by a de novo deletion located upstream of the \u03b1-globin gene cluster. Proc Natl Acad Sci USA 1990 81: 9431\u20139435.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF5200610_CR54","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1007\/BF00220551","volume":"89","author":"L Romao","year":"1992","unstructured":"Romao L, Cash F, Weiss I et al. Human \u03b1-globin gene expression is silenced by terminal truncation of chromosome 16p beginning immediately 3\u2032 of the \u03b6-globin gene. Hum Genet 1992 89: 323\u2013328.","journal-title":"Hum Genet"},{"key":"BF5200610_CR55","doi-asserted-by":"publisher","first-page":"1589","DOI":"10.1182\/blood.V78.6.1589.1589","volume":"78","author":"L Romao","year":"1991","unstructured":"Romao L, OsorioAlmeida L, Higgs DR, Lavinha J, Liebhaber SA . \u03b1-thalassemia resulting from deletion of regulatory sequences far upstream of the \u03b1-globin structural genes. Blood 1991 78: 1589\u20131595.","journal-title":"Blood"},{"key":"BF5200610_CR56","doi-asserted-by":"publisher","first-page":"868","DOI":"10.1038\/346868a0","volume":"346","author":"AOM Wilkie","year":"1990","unstructured":"Wilkie AOM, Lamb J, Harris PC, Finney RD, Higgs DR . A truncated human chromosome 16 associated with \u03b1 thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n. Nature 1990 346: 868\u2013871.","journal-title":"Nature"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/5200610.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/5200610","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/5200610.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,7]],"date-time":"2024-01-07T01:30:34Z","timestamp":1704591034000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5200610"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,3,1]]},"references-count":56,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2001,3,1]]}},"alternative-id":["BF5200610"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5200610","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,3,1]]},"assertion":[{"value":"13 September 2000","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 November 2000","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 November 2000","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 April 2001","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}