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A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family
PURPOSE: The purpose of this study was to identify the underlying molecular genetic defect in a large consanguineous Pakistani family with Oguchi disease who had been given a diagnosis of autosomal recessive retinitis pigmentosa. METHODS: The family was genotyped with the Affymetrix 10K single nucle...
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| Главные авторы: | , , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Molecular Vision
2009
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2742643/ https://ncbi.nlm.nih.gov/pubmed/19753316 |
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