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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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Pubblicato in:Mol Vis
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Molecular Vision 2015
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4539017/
https://ncbi.nlm.nih.gov/pubmed/26321862
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