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A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract
PURPOSE: To identify the molecular defect underlying an autosomal dominant congenital nuclear cataract in a Chinese family. METHODS: Twenty-two members of a three-generation pedigree were recruited, clinical examinations were performed, and genomic DNA was extracted from peripheral blood leukocytes....
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| Hoofdauteurs: | , , , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Molecular Vision
2008
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2324115/ https://ncbi.nlm.nih.gov/pubmed/18432316 |
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