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Congenital anterior polar cataract associated with a missense mutation in the human alpha crystallin gene CRYAA
PURPOSE: To identify the potential pathogenic mutation over four generations of a Chinese family with congenital anterior polar cataracts (APC). METHODS: We investigated four generations of a Chinese family who are afflicted with anterior polar cataracts. The family resides in a relatively isolated...
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/PMC3209423/ https://www.ncbi.nlm.nih.gov/pubmed/22065922 |