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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Detalles Bibliográficos
Autores principales: Azam, Maleeha, Collin, Rob W.J., Khan, Muhammad Imran, Shah, Syed Tahir Abbas, Qureshi, Nadeem, Ajmal, Muhammad, den Hollander, Anneke I., Qamar, Raheel, Cremers, Frans P.M.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2742643/
https://www.ncbi.nlm.nih.gov/pubmed/19753316

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2742643/
https://www.ncbi.nlm.nih.gov/pubmed/19753316

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