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

标题
Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta
作者
关键词
-
出版物
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 86, Issue 3, Pages 389-398
出版商
Elsevier BV
发表日期
2010-02-26
DOI
10.1016/j.ajhg.2010.01.034

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