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Article

Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM 5 Mutation

13 Feb 2013

Abstract excerpt

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) and provide a detailed description of their phenotype. This mutation leads to the creation of a novel start codon...

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PMID: 23408678
DOI: 10.1002/jbmr.1891

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