Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

Title
Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta
Authors
Keywords
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Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 86, Issue 3, Pages 389-398
Publisher
Elsevier BV
Online
2010-02-26
DOI
10.1016/j.ajhg.2010.01.034

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