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Phenotype-genotype correlations in autosomal dominant retinitis pigmentosa caused by RHO, D190N
PURPOSE: To phenotype a family with RHO (Asp190Asn or D190N) dominantly inherited retinitis pigmentosa (RP) and to describe an approach to surveying affected families. METHODS: Four patients from a family with a history of autosomal dominant RP had complete clinical examinations and underwent full-f...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2008
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2749948/ https://ncbi.nlm.nih.gov/pubmed/19085385 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/02713680802484645 |
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