Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family

PURPOSE: To investigate the genetic basis of autosomal recessive congenital cataracts in a consanguineous Pakistani family. METHODS: All affected individuals underwent a detailed ophthalmological and clinical examination. Blood samples were collected and genomic DNAs were extracted. A genome-wide sc...

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Main Authors: Kaul, Haiba, Riazuddin, S. Amer, Shahid, Mariam, Kousar, Samra, Butt, Nadeem H., Zafar, Ahmad U., Khan, Shaheen N., Husnain, Tayyab, Akram, Javed, Hejtmancik, J. Fielding, Riazuddin, Sheikh
Format: Artigo
Sprog:Inglês
Udgivet: Molecular Vision 2010
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Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2846848/
https://ncbi.nlm.nih.gov/pubmed/20361013
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