{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T20:39:44Z","timestamp":1769114384473,"version":"3.49.0"},"reference-count":58,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2022,1,10]],"date-time":"2022-01-10T00:00:00Z","timestamp":1641772800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002261","name":"Russian Foundation for Basic Research","doi-asserted-by":"publisher","award":["20-315-90063 \u0410\u0441\u043f\u0438\u0440\u0430\u043d\u0442\u044b, 19-015-00489 \u0410"],"award-info":[{"award-number":["20-315-90063 \u0410\u0441\u043f\u0438\u0440\u0430\u043d\u0442\u044b, 19-015-00489 \u0410"]}],"id":[{"id":"10.13039\/501100002261","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Grant of the Bashkortostan Republic for young scientists (SEC-GMU-2021) and the program \u00abResearch of molecular pathogenesis and clinical comorbidity of monogenic and multifactorial connective tissue diseases\u00bb","award":["none"],"award-info":[{"award-number":["none"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Osteogenesis imperfecta (OI) is an inherited disease of bone characterized by increased bone fragility. Here, we report the results of the molecular architecture of osteogenesis imperfecta research in patients from Bashkortostan Republic, Russia. In total, 16 mutations in COL1A1, 11 mutations in COL1A2, and 1 mutation in P3H1 and IFIMT5 genes were found in isolated states; 11 of them were not previously reported in literature. We found mutations in CLCN7, ALOX12B, PLEKHM1, ERCC4, ARSB, PTH1R, and TGFB1 that were not associated with OI pathogenesis in patients with increased bone fragility. Additionally, we found combined mutations (c.2869C&gt;T, p. Gln957* in COL1A1 and c.1197+5G&gt;A in COL1A2; c.579delT, p. Gly194fs in COL1A1 and c.1197+5G&gt;A in COL1A2; c.2971G&gt;C, p. Gly991Arg in COL1A2 and c.212G&gt;C, p.Ser71Thr in FGF23; c.-14C&gt;T in IFITM5 and c.1903C&gt;T, p. Arg635* in LAMB3) in 4 patients with typical OI clinic phenotypes.<\/jats:p>","DOI":"10.3390\/genes13010124","type":"journal-article","created":{"date-parts":[[2022,1,10]],"date-time":"2022-01-10T17:42:25Z","timestamp":1641836545000},"page":"124","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia)"],"prefix":"10.3390","volume":"13","author":[{"given":"Dina","family":"Nadyrshina","sequence":"first","affiliation":[{"name":"Institute of Biochemistry and Genetics\u2014Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences, 450054 Ufa, Russia"},{"name":"Departament of Genetics and Fundamental Medicine, Bashkir State University, 450076 Ufa, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6975-5151","authenticated-orcid":false,"given":"Aliya","family":"Zaripova","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry and Genetics\u2014Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences, 450054 Ufa, Russia"},{"name":"Republican Medical Genetics Centre, 450076 Ufa, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0841-3024","authenticated-orcid":false,"given":"Anton","family":"Tyurin","sequence":"additional","affiliation":[{"name":"Internal Medicine Department, Bashkir State Medical University, 450008 Ufa, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ildar","family":"Minniakhmetov","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry and Genetics\u2014Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences, 450054 Ufa, Russia"},{"name":"Republican Medical Genetics Centre, 450076 Ufa, Russia"},{"name":"Internal Medicine Department, Bashkir State Medical University, 450008 Ufa, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ekaterina","family":"Zakharova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115478 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8643-850X","authenticated-orcid":false,"given":"Rita","family":"Khusainova","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry and Genetics\u2014Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences, 450054 Ufa, Russia"},{"name":"Republican Medical Genetics Centre, 450076 Ufa, Russia"},{"name":"Internal Medicine Department, Bashkir State Medical University, 450008 Ufa, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,1,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1016\/S0140-6736(15)00728-X","article-title":"Osteogenesis imperfecta","volume":"387","author":"Forlino","year":"2016","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1470","DOI":"10.1002\/ajmg.a.36545","article-title":"Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment","volume":"164","author":"Sillence","year":"2014","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"219","DOI":"10.18699\/VJ20.614","article-title":"Modern classification and molecular-genetic aspects of osteogenesis imperfecta","volume":"24","author":"Zaripova","year":"2020","journal-title":"Vavilov J. Genet. Breed."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1038\/ejhg.2015.81","article-title":"Genetic epidemiology, prevalence, and genotype\u2014Phenotype correlations in the Swedish population with osteogenesis imperfecta","volume":"23","author":"Lindahl","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1002\/humu.20429","article-title":"Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: Regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans","volume":"28","author":"Marini","year":"2007","journal-title":"Hum. Mutat."},{"key":"ref_6","unstructured":"(2021, December 09). Available online: https:\/\/oi.gene.le.ac.uk\/."},{"key":"ref_7","first-page":"38","article-title":"Analysis of the composition of COL1A1 and COL1A2 gene mutations using massive parallel sequencing in patients with osteogenesis imperfecta in the Tomsk region","volume":"19","author":"Skryabin","year":"2020","journal-title":"Med. Genet."},{"key":"ref_8","unstructured":"(2021, December 09). Available online: http:\/\/www.openbioinformatics.org\/annovar."},{"key":"ref_9","unstructured":"(2021, December 09). Available online: www.hgvs.org."},{"key":"ref_10","unstructured":"(2021, December 09). Available online: http:\/\/www.ncbi.nlm.nih.gov\/RefSeq\/."},{"key":"ref_11","unstructured":"(2021, December 09). Available online: http:\/\/gnomad.broadinsitute.org."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1007\/s00774-011-0284-6","article-title":"The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta","volume":"30","author":"Zhang","year":"2012","journal-title":"J. Bone Miner. Metab."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1111\/j.1399-0004.2006.00646.x","article-title":"Osteogenesis imperfecta: Clinical, biochemical and molecular findings","volume":"70","author":"Venturi","year":"2006","journal-title":"Clin. Genet."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1186\/s13023-015-0370-2","article-title":"Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta","volume":"10","author":"Lin","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1002\/(SICI)1098-1004(1996)7:3<219::AID-HUMU6>3.0.CO;2-5","article-title":"Splice site mutation causing deletion of exon 21 sequences from the pro \u03b1 2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imper-fecta","volume":"7","author":"Nicholls","year":"1996","journal-title":"Hum. Mutat."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1002\/lary.20155","article-title":"Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta","volume":"119","author":"Swinnen","year":"2009","journal-title":"Laryngoscope"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1016\/j.jmoldx.2011.06.006","article-title":"A Novel DHPLC-Based Procedure for the Analysis of COL1A1 and COL1A2 Mutations in Osteogenesis Imperfecta","volume":"13","author":"Fuccio","year":"2011","journal-title":"J. Mol. Diagn."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1002\/humu.9230","article-title":"Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients","volume":"23","author":"Frydman","year":"2004","journal-title":"Hum. Mutat."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"722","DOI":"10.3389\/fgene.2019.00722","article-title":"COL1A1\/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients","volume":"10","author":"Zhytnik","year":"2019","journal-title":"Front. Genet."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1007\/s00223-018-0447-8","article-title":"Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis","volume":"103","author":"Rolvien","year":"2018","journal-title":"Calcif. Tissue Int."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1002\/1097-0223(200011)20:11<876::AID-PD936>3.0.CO;2-X","article-title":"Prenatal diagnosis of a novelCOL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy","volume":"20","author":"Ries","year":"2000","journal-title":"Prenat. Diagn."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1002\/humu.20071","article-title":"Lack of correlation between the type ofCOL1A1orCOL1A2mutation and hearing loss in osteogenesis imperfecta patients","volume":"24","author":"Hartikka","year":"2004","journal-title":"Hum. Mutat."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1697","DOI":"10.1002\/humu.22146","article-title":"Validation of a quantitative PCR-high-resolution melting protocol for simultaneous screening ofCOL1A1andCOL1A2point mutations and large rearrangements: Application for diagnosis of osteogenesis imperfecta","volume":"33","author":"Gentile","year":"2012","journal-title":"Hum. Mutat."},{"key":"ref_24","first-page":"23682531","article-title":"Novel COL1A1 gene mutation (R1026X) of type I osteogenesis imperfecta: A first case report","volume":"96","author":"Niramitmahapanya","year":"2013","journal-title":"J. Med. Assoc. Thail. Chotmaihet Thangphaet"},{"key":"ref_25","doi-asserted-by":"crossref","unstructured":"Kaneto, C.M., Lima, P.S., Zanette, D.L., Prata, K.L., Neto, J.M.P., de Paula, F.J., and A Silva, W. (2014). COL1A1and miR-29b show lower expression levels during osteoblast differentiation of bone marrow stromal cells from Osteogenesis Imperfecta patients. BMC Med. Genet., 15.","DOI":"10.1186\/1471-2350-15-45"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"786","DOI":"10.3109\/00016489.2016.1159327","article-title":"Identification of two recurrent mutations of COL1A1 gene in Chinese Van der Hoeve syndrome patients","volume":"136","author":"Duan","year":"2016","journal-title":"Acta Oto-Laryngol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"4273","DOI":"10.1073\/pnas.070050097","article-title":"Destabilization of osteogenesis imperfecta collagen-like model peptides correlates with the identity of the residue replacing glycine","volume":"97","author":"Beck","year":"2000","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1002\/bip.21432","article-title":"Sequence environment of mutation affects stability and folding in collagen model peptides of osteogenesis imperfecta","volume":"96","author":"Bryan","year":"2011","journal-title":"Biopolymer"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"4787","DOI":"10.1074\/jbc.M705773200","article-title":"Structural Heterogeneity of Type I Collagen Triple Helix and Its Role in Osteogenesis Imperfecta","volume":"283","author":"Makareeva","year":"2008","journal-title":"J. Biol. Chem."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1002\/humu.20091","article-title":"Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders","volume":"24","author":"Persikov","year":"2004","journal-title":"Hum. Mutat."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"10771","DOI":"10.1021\/bi201476a","article-title":"Osteogenesis Imperfecta Missense Mutations in Collagen: Structural Consequences of a Glycine to Alanine Replacement at a Highly Charged Site","volume":"50","author":"Xiao","year":"2011","journal-title":"Biochemistry"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1086\/301689","article-title":"Analysis of the COL1A1 and COL1A2 Genes by PCR Amplification and Scanning by Conformation-Sensitive Gel Electrophoresis Identifies Only COL1A1 Mutations in 15 Patients with Osteogenesis Imperfecta Type I: Identification of Common Sequences of Null-Allele Mutations","volume":"62","author":"Nuytinck","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"ref_33","first-page":"95","article-title":"COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta","volume":"44","author":"Kucinskas","year":"2003","journal-title":"J. Appl. Genet."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1007\/s00223-008-9113-x","article-title":"Evidence that Abnormal High Bone Mineralization in Growing Children with Osteogenesis Imperfecta is not Associated with Specific Collagen Mutations","volume":"82","author":"Roschger","year":"2008","journal-title":"Calcif. Tissue Int."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000332228","article-title":"Osteogenesis Imperfecta: A Review with Clinical Examples","volume":"2","author":"Cobben","year":"2011","journal-title":"Mol. Syndr."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1002\/(SICI)1098-1004(1997)9:4<378::AID-HUMU16>3.0.CO;2-#","article-title":"Serine for glycine substitutions in the C-terminal third of the \u03b1 1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta","volume":"9","author":"Lund","year":"1997","journal-title":"Hum. Mutat."},{"key":"ref_37","first-page":"192","article-title":"Gene mutation analysis of a Chinese family with osteogenesis imperfecta","volume":"23","author":"Wang","year":"2006","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1002\/humu.9423","article-title":"Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta","volume":"27","author":"Lee","year":"2006","journal-title":"Hum. Mutat."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/j.cca.2018.05.048","article-title":"Genotype-phenotype correlation among Malaysian patients with osteogenesis imperfecta","volume":"484","author":"Nawawi","year":"2018","journal-title":"Clin. Chim. Acta"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"53","DOI":"10.5371\/hp.2018.30.1.53","article-title":"Pauwels Osteotomy for Femoral Neck Nonunion in Two Adult Siblings with Osteogenesis Imperfecta","volume":"30","author":"Kloen","year":"2018","journal-title":"Hip Pelvis"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1186\/s40246-016-0083-1","article-title":"Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta","volume":"10","author":"Duy","year":"2016","journal-title":"Hum. Genom."},{"key":"ref_42","doi-asserted-by":"crossref","unstructured":"Wang, Y., Cui, Y., Zhou, X., and Han, J. (2015). Development of a High-Throughput Resequencing Array for the Detection of Pathogenic Mutations in Osteogenesis Imperfecta. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0127254"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1006\/bmme.1997.2620","article-title":"Phenotypic Comparison of an Osteogenesis Imperfecta Type IV Proband with a de Novo\u03b12(I) Gly922 \u2192 Ser Substitution in Type I Collagen and an Unrelated Patient with an Identical Mutation","volume":"62","author":"Forlino","year":"1997","journal-title":"Biochem. Mol. Med."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1111\/cge.12434","article-title":"Fetal skeletal dysplasias in a tertiary care center: Radiology, pathology, and molecular analysis of 112 cases","volume":"87","author":"Barkova","year":"2014","journal-title":"Clin. Genet."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"2667","DOI":"10.1016\/S0021-9258(18)53826-6","article-title":"Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology","volume":"268","author":"Marini","year":"1993","journal-title":"J. Biol. Chem."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"1319","DOI":"10.1093\/hmg\/2.8.1319","article-title":"Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfecta","volume":"2","author":"Sztrolovics","year":"1993","journal-title":"Hum. Mol. Genet."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.ejmg.2014.10.001","article-title":"Mutations in patients with osteogenesis imperfecta from consanguineous Indian families","volume":"58","author":"Stephen","year":"2015","journal-title":"Eur. J. Med. Genet."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"2001","DOI":"10.1002\/jbmr.1942","article-title":"Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1","volume":"28","author":"Roughley","year":"2013","journal-title":"J. Bone Miner. Res."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"1435","DOI":"10.1002\/humu.20799","article-title":"CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta","volume":"29","author":"Baldridge","year":"2008","journal-title":"Hum. Mutat."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.tig.2003.11.004","article-title":"Collagens, modifying enzymes and their mutations in humans, flies and worms","volume":"20","author":"Myllyharju","year":"2004","journal-title":"Trends Genet."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1038\/ng1968","article-title":"Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal\/severe osteogenesis imperfecta","volume":"39","author":"Cabral","year":"2007","journal-title":"Nat. Genet."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1002\/mgg3.21","article-title":"Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations","volume":"1","author":"Pepin","year":"2013","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_53","doi-asserted-by":"crossref","unstructured":"Lazarus, S., McInerney-Leo, A.M., McKenzie, F.A., Baynam, G., Broley, S., Cavan, B., Munns, C.F., Pruijs, J.E., Sillence, D., and Terhal, P.A. (2014). The IFITM5 mutation c.-14C> T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V. BMC Musculoskelet Disord., 15.","DOI":"10.1186\/1471-2474-15-107"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/j.ajhg.2012.06.011","article-title":"A Mutation in the 5\u2032-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus","volume":"91","author":"Semler","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/j.ajhg.2012.06.005","article-title":"A Single Recurrent Mutation in the 5\u2032-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V","volume":"91","author":"Cho","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"2333","DOI":"10.1002\/jbmr.1983","article-title":"Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene","volume":"28","author":"Grover","year":"2013","journal-title":"J. Bone Miner. Res."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"1980","DOI":"10.1002\/ajmg.a.36025","article-title":"A recurrent mutation in the 5\u2032-UTR of IFITM5 causes osteogenesis imperfecta type V","volume":"161","author":"Takagi","year":"2013","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"1523","DOI":"10.1002\/jbmr.1891","article-title":"Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM 5 Mutation","volume":"28","author":"Shapiro","year":"2013","journal-title":"J. Bone Miner. Res."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/1\/124\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T14:01:56Z","timestamp":1760364116000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/1\/124"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,10]]},"references-count":58,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,1]]}},"alternative-id":["genes13010124"],"URL":"https:\/\/doi.org\/10.3390\/genes13010124","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,10]]}}}