A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus-Reference-Cited by-同舟云学术

A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus

Published:2012-08 Issue:2 Volume:91 Page:349-357
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Semler Oliver,Garbes Lutz,Keupp Katharina,Swan Daniel,Zimmermann Katharina,Becker Jutta,Iden Sandra,Wirth Brunhilde,Eysel Peer,Koerber Friederike,Schoenau Eckhard,Bohlander Stefan K.,Wollnik Bernd,Netzer Christian

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference50 articles.

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4. Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta;Chu;Nature,1983

5. Synthesis and processing of a type I procollagen containing shortened pro-alpha 1(I) chains by fibroblasts from a patient with osteogenesis imperfecta;Williams;J. Biol. Chem.,1983

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