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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Blackwell Publishing Ltd 2013
Pynciau:
Original Articles
Mynediad Ar-lein: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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