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Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYβA3/A1
PURPOSE: To identify the underlying genetic defect in four generations of a Chinese family affected with bilateral congenital polymorphic cataracts. METHODS: Family history and clinical data were recorded. The phenotype was documented using slit-lamp photography. Genomic DNA samples were extracted f...
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| Auteurs principaux: | , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Molecular Vision
2012
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3425576/ https://ncbi.nlm.nih.gov/pubmed/22919269 |
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