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A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations
PURPOSE: To characterize the disease-causing mutations in a Chinese family with progressive childhood cataracts. METHODS: Family history and clinical data were recorded. Direct gene sequencing together with multi-point linkage analysis using microsatellite markers flanking the gene was applied to id...
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| Principais autores: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Molecular Vision
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2994768/ https://ncbi.nlm.nih.gov/pubmed/21139983 |
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