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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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Xehetasun bibliografikoak
Argitaratua izan da:Mol Vis
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Molecular Vision 2015
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4539017/
https://ncbi.nlm.nih.gov/pubmed/26321862
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