Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families

PURPOSE: To identify the underlying genetic causes of fundus albipunctatus (FA), a rare form of congenital stationary night blindness that is characterized by the presence of white dots in the midperiphery of the retina and delayed dark adaptation, in Pakistan. METHODS: Two families with FA were ide...

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Detalles Bibliográficos
Autores principales: Ajmal, Muhammad, Khan, Muhammad Imran, Neveling, Kornelia, Khan, Yar Muhammad, Ali, Syeda Hafiza Benish, Ahmed, Waqas, Iqbal, Muhammad Safdar, Azam, Maleeha, den Hollander, Anneke I., Collin, Rob W.J., Qamar, Raheel, Cremers, Frans P.M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3380946/
https://www.ncbi.nlm.nih.gov/pubmed/22736946

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3380946/
https://www.ncbi.nlm.nih.gov/pubmed/22736946

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