Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families

PURPOSE: This study was conducted to localize and identify causal mutations associated with autosomal recessive retinitis pigmentosa (RP) in consanguineous familial cases of Pakistani origin. METHODS: Ophthalmic examinations that included funduscopy and electroretinography (ERG) were performed to co...

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Detalhes bibliográficos
Publicado no:Mol Vis
Main Authors: Khan, Shahid Y., Ali, Shahbaz, Naeem, Muhammad Asif, Khan, Shaheen N., Husnain, Tayyab, Butt, Nadeem H., Qazi, Zaheeruddin A., Akram, Javed, Riazuddin, Sheikh, Ayyagari, Radha, Hejtmancik, J. Fielding, Riazuddin, S. Amer
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2015
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4539017/
https://ncbi.nlm.nih.gov/pubmed/26321862
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