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Identification of a novel COL1A1 frameshift mutation, c.700delG, in a Chinese osteogenesis imperfecta family

Osteogenesis imperfecta (OI) is a family of genetic disorders associated with bone loss and fragility. Mutations associated with OI have been found in genes encoding the type I collagen chains. People with OI type I often produce insufficient α1-chain type I collagen because of frameshift, nonsense,...

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Detalles Bibliográficos
Autores principales:	Wang, Xiran, Pei, Yu, Dou, Jingtao, Lu, Juming, Li, Jian, Lv, Zhaohui
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sociedade Brasileira de Genética 2015
Materias:	Human and Medical Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4415561/ https://www.ncbi.nlm.nih.gov/pubmed/25983617 http://dx.doi.org/10.1590/S1415-475738120130336

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