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A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family
PURPOSE: To identify the genetic defect in a five-generation Chinese family with congenital Y-suture cataracts. METHODS: A five-generation Chinese family with inherited Y-suture cataract phenotype was recruited. Detailed family history and clinical data of the family were recorded. Candidate genes s...
Autores principales: | Yang, Zhenfei, Li, Qian, Ma, Zicheng, Guo, Yuanyuan, Zhu, Siquan, Ma, Xu |
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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/PMC3156781/ https://www.ncbi.nlm.nih.gov/pubmed/21850182 |
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