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A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family
PURPOSE: Congenital cataract is both a clinically and genetically heterogeneous lens disorder. The purpose of this study is to map and identify the mutation in an autosomal dominant congenital nuclear cataract in a Chinese family. METHODS: Patients were given physical examinations and their blood sa...
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| Main Authors: | , , , , , , , , |
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| Format: | Artigo |
| Language: | Inglês |
| Published: |
Molecular Vision
2011
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3086624/ https://ncbi.nlm.nih.gov/pubmed/21552498 |
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