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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Bibliografiska uppgifter
I publikationen:BMC Med Genet
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2014
Ämnen:
Research Article
Länkar: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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