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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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| Main Authors: | , , , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Molecular Vision
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2855732/ https://ncbi.nlm.nih.gov/pubmed/20405025 |
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