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Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy

PURPOSE: To identify pathogenic mutations responsible for retinal dystrophy in three consanguineous Pakistani families. METHODS: A thorough ophthalmic examination including fundus examination and electroretinography was performed, and blood samples were collected from all participating members. Geno...

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Detalles Bibliográficos
Autores principales:	Kabir, Firoz, Naz, Shagufta, Riazuddin, S. Amer, Naeem, Muhammad Asif, Khan, Shaheen N., Husnain, Tayyab, Akram, Javed, Sieving, Paul A., Hejtmancik, J. Fielding, Riazuddin, Sheikh
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2013
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3716412/ https://www.ncbi.nlm.nih.gov/pubmed/23878505

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