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A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree
PURPOSE: To identify the potential pathogenic mutation in a three-generation Chinese family with congenital nuclear pulverulent cataracts. METHODS: A three-generation pedigree was recruited for our study. Three patients and four healthy members of the family underwent a comprehensive clinical examin...
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| Main Authors: | , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Molecular Vision
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3107996/ https://ncbi.nlm.nih.gov/pubmed/21647269 |
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