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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236509/
https://www.ncbi.nlm.nih.gov/pubmed/25124159
http://dx.doi.org/10.1186/s12881-014-0097-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236509/
https://www.ncbi.nlm.nih.gov/pubmed/25124159
http://dx.doi.org/10.1186/s12881-014-0097-2

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