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A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese family
PURPOSE: To identify the genetic defects associated with autosomal dominant congenital nuclear cataract in a Chinese family. METHODS: Clinical data were collected, and the phenotypes of the affected members in this family were recorded by slit-lamp photography. Genomic DNA was isolated from peripher...
Autores principales: | Chen, Qiang, Ma, Junjie, Yan, Ming, Mothobi, Maneo Emily, Liu, Yuanyuan, Zheng, Fang |
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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/PMC2709425/ https://www.ncbi.nlm.nih.gov/pubmed/19597569 |
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