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An αA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits an altered heat-shock response
PURPOSE: To investigate the clinical features and molecular basis of inherited cataract-microcornea caused by an αA-crystallin gene (CRYAA) mutation in a Chinese family. METHODS: A three-generation Chinese family with members having autosomal dominant cataract and microcornea was recruited. Genomic...
Autores principales: | , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2009
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2690964/ https://www.ncbi.nlm.nih.gov/pubmed/19503744 |