A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family

BACKGROUND: Almost one-third of congenital cataracts are primarily autosomal dominant disorders, which are also called autosomal dominant congenital cataract, resulting in blindness and clouding of the lens. The purpose of this study was to identify the disease-causing mutation in a Chinese family a...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Xia, Xin-Yi, Li, Na, Cao, Xiang, Wu, Qiu-Yue, Li, Tian-Fu, Zhang, Cui, Li, Wei-Wei, Cui, Ying-Xia, Li, Xiao-Jun, Xue, Chun-Yan
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4236509/
https://ncbi.nlm.nih.gov/pubmed/25124159
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-014-0097-2
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