Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes
出版年份 2011 全文链接
标题
Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes
作者
关键词
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出版物
HUMAN MOLECULAR GENETICS
Volume 20, Issue 8, Pages 1595-1609
出版商
Oxford University Press (OUP)
发表日期
2011-02-01
DOI
10.1093/hmg/ddr037
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta
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- Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta
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- Prolyl 4-hydroxylase
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- (2009) Jae Won Choi et al. PLoS Genetics
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- (2008) Kelly L. Gorres et al. BIOCHEMISTRY
- Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships
- (2008) Dale L. Bodian et al. HUMAN MOLECULAR GENETICS
- CRTAPandLEPRE1mutations in recessive osteogenesis imperfecta
- (2008) Dustin Baldridge et al. HUMAN MUTATION
- Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation
- (2008) A Willaert et al. JOURNAL OF MEDICAL GENETICS
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