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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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Bibliografische gegevens
Gepubliceerd in:BMC Med Genet
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2014
Onderwerpen:
Online toegang: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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