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A new locus for autosomal recessive congenital cataract identified in a Pakistani family

PURPOSE: To identify the disease locus for autosomal recessive congenital cataract in a consanguineous Pakistani family. METHODS: All affected individuals underwent detailed ophthalmologic and medical examination. Blood samples were collected and DNA was extracted. A genome-wide scan was performed w...

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Detalles Bibliográficos
Autores principales: Kaul, Haiba, Riazuddin, S. Amer, Yasmeen, Afshan, Mohsin, Sadia, Khan, Mohsin, Nasir, Idrees A., Khan, Shaheen N., Husnain, Tayyab, Akram, Javed, Hejtmancik, J. Fielding, Riazuddin, Sheikh
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2822550/
https://www.ncbi.nlm.nih.gov/pubmed/20161816