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A novel mutation in CRYAA is associated with autosomal dominant suture cataracts in a Chinese family
PURPOSE: To identify the genetic defect in a three-generation Chinese family with congenital cataracts. METHODS: The phenotype of a three-generation Chinese family with congenital cataracts was recruited. Detailed family history and clinical data of the family were recorded. Candidate gene sequencin...
Autores principales: | Su, Dongmei, Guo, Yuanyuan, Li, Qian, Guan, Lina, Zhu, Siquan, Ma, Xu |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3534140/ https://www.ncbi.nlm.nih.gov/pubmed/23288997 |
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