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A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract
PURPOSE: To identify the genetic cause responsible for the autosomal dominant hereditary cataract in a Chinese family. METHODS: A whole family of a proband who has a dominant congenital pulverulent nuclear cataract was recruited into Zhongnan Hospital. The lenses of patients were observed by a slit-...
Autores principales: | Yan, Ming, Xiong, Chenling, Ye, Shui Qing, Chen, Yongmei, Ke, Min, Zheng, Fang, Zhou, Xin |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2008
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2268715/ https://www.ncbi.nlm.nih.gov/pubmed/18334966 |
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