تحميل...
A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin
PURPOSE: To identify the underlying genetic defect in a three-generation family with five members affected with dominant bilateral congenital cataract and microcornea. METHODS: Detailed family history and clinical data were recorded. Mutation screening in the candidate genes, CRYAA, CRYBB1, MAF, GJA...
محفوظ في:
المؤلفون الرئيسيون: | , , , , |
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التنسيق: | Artigo |
اللغة: | Inglês |
منشور في: |
Molecular Vision
2008
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الموضوعات: | |
الوصول للمادة أونلاين: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2255026/ https://ncbi.nlm.nih.gov/pubmed/18334946 |
الوسوم: |
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