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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...
Autores principales: | 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 |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2846848/ https://www.ncbi.nlm.nih.gov/pubmed/20361013 |
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