Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1

PURPOSE: To identify the pathogenic mutations responsible for autosomal recessive congenital cataracts in consanguineous Pakistani families. METHODS: All affected individuals underwent detailed ophthalmologic and medical examination. Blood samples were collected and genomic DNA was extracted. A geno...

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Autors principals: Yasmeen, Afshan, Riazuddin, S. Amer, Kaul, Haiba, Mohsin, Sadia, Khan, Mohsin, Qazi, Zaheeruddin A., Nasir, Idrees A., Zafar, Ahmad U., Khan, Shaheen N., Husnain, Tayyab, Akram, Javed, Hejtmancik, J. Fielding, Riazuddin, Sheikh
Format: Artigo
Idioma:Inglês
Publicat: Molecular Vision 2010
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Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2855732/
https://ncbi.nlm.nih.gov/pubmed/20405025
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