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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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| Gepubliceerd in: | BMC Med Genet |
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| Hoofdauteurs: | , , , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
BioMed Central
2014
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| 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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