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A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family
PURPOSE: To identify the genetic defect associated with autosomal dominant congenital nuclear cataract in a Chinese family. METHODS: Family history and phenotypic data were recorded, and the phenotypes were documented by slit lamp photography. The genomic DNA was extracted from peripheral blood leuk...
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| Hlavní autoři: | , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Molecular Vision
2008
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2447816/ https://ncbi.nlm.nih.gov/pubmed/18618005 |
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