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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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| Publicat a: | Mol Vis |
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| Autors principals: | , , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Molecular Vision
2016
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4947966/ https://ncbi.nlm.nih.gov/pubmed/27440997 |
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