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Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family
PURPOSE: To identify a novel disease-causing mutation of the GJA3 (gap junction alpha-3 protein) gene in a Chinese family with autosomal dominant congenital cataract (ADCC). METHODS: One family was examined clinically. After informed consent was obtained, genomic DNA was extracted from the venous bl...
Autores principales: | Zhang, Xiaohui, Wang, Lina, Wang, Jun, Dong, Bing, Li, Yang |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272055/ https://www.ncbi.nlm.nih.gov/pubmed/22312188 |
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