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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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Pubblicato in:BMC Med Genet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2014
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Accesso online: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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