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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...
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Main Authors: | , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Molecular Vision
2011
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3156781/ https://ncbi.nlm.nih.gov/pubmed/21850182 |
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