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

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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Bibliographic Details
Main Authors: Xiran Wang, Yu Pei, Jingtao Dou, Juming Lu, Jian Li, Zhaohui Lv
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2015-03-01
Series:Genetics and Molecular Biology
Subjects:
Osteogenesis imperfecta
Chinese OI type 1 family
type I collagen
sequence analysis
frameshift mutation
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100001&lng=en&tlng=en

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