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Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases
PURPOSE: To identify pathogenic mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous familial cases. METHODS: Seven large familial cases with multiple individuals diagnosed with retinitis pigmentosa were included in the study. Affected individuals in these fami...
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| 出版年: | Mol Vis |
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| 主要な著者: | , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Molecular Vision
2016
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4947966/ https://ncbi.nlm.nih.gov/pubmed/27440997 |
| タグ: |
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