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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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Autori principali: Tsui, Irena, Chou, Chai Lin, Palmer, Neeco, Lin, Chyuan-Sheng, Tsang, Stephen H.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2008
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Accesso online: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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