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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Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2012
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3380946/
https://ncbi.nlm.nih.gov/pubmed/22736946
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