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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Veröffentlicht in:BMC Med Genet
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2014
Schlagworte:
Research Article
Online Zugang: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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