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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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Detalles Bibliográficos
Autores principales:	Liu, Wei, Gu, Feng, Ji, Jian, Lu, Duanyang, Li, Xiaorong, Ma, Xu
Formato:	Texto
Lenguaje:	English
Publicado:	Molecular Vision 2007
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2642918/ https://www.ncbi.nlm.nih.gov/pubmed/17392686

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