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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. 2014 Mar 27;15:107. doi: 10.1186/1471-2474-15-107.
BMC Musculoskelet Disord. 2014.
PMID: 24674092
Free PMC article.
Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.
Chiu YH, Chang YC, Chang YH, Niu DM, Yang YL, Ye J, Jiang J, Okano Y, Lee DH, Pangkanon S, Kuptanon C, Hock NL, Chiong MA, Cavan BV, Hsiao KJ, Liu TT.
Chiu YH, et al. Among authors: cavan bv.
J Hum Genet. 2012 Feb;57(2):145-52. doi: 10.1038/jhg.2011.146. Epub 2012 Jan 12.
J Hum Genet. 2012.
PMID: 22237589
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