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A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family

PURPOSE: To identify the genetic defect of osteogenesis imperfecta (OI) type I in a large Chinese family of five generations. METHODS: Seventeen members in an OI type I family were recruited, and clinical examinations were performed. All members were genotyped with microsatellite markers at loci ass...

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Detaylı Bibliyografya
Asıl Yazarlar: Liu, Wei, Gu, Feng, Ji, Jian, Lu, Duanyang, Li, Xiaorong, Ma, Xu
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Molecular Vision 2007
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2642918/
https://ncbi.nlm.nih.gov/pubmed/17392686
Etiketler: Etiketle
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