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Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract
PURPOSE: To identify the pathogenic gene mutation in a Chinese family with autosomal dominant inherited nuclear cataract. METHODS: After obtained informed consent, detailed ophthalmic examinations were performed, genomic DNAs were obtained from eighteen family members in a four-generation Chinese fa...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Molecular Vision
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3171490/ https://www.ncbi.nlm.nih.gov/pubmed/21921990 |