Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM5 Mutation

In a large cohort of osteogenesis imperfecta type V (OI type V) patients (17 individuals from 12 families), we identified the same mutation in the 5′ untranslated region (5′UTR) of the interferon-induced transmembrane protein 5 (IFITM5) gene by whole exome and Sanger sequencing (IFITM5 c.–14C > T...

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Detalhes bibliográficos
Main Authors: Shapiro, Jay R, Lietman, Caressa, Grover, Monica, Lu, James T, Nagamani, Sandesh CS, Dawson, Brian C, Baldridge, Dustin M, Bainbridge, Matthew N, Cohn, Dan H, Blazo, Maria, Roberts, Timothy T, Brennen, Feng-Shu, Wu, Yimei, Gibbs, Richard A, Melvin, Pamela, Campeau, Philippe M, Lee, Brendan H
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2013
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3688672/
https://ncbi.nlm.nih.gov/pubmed/23408678
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.1891
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