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Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families
PURPOSE: To assess for γD-crystallin (CRYGD) mutation in 2 Saudi patients with cerulean cataract and in a brother of one of the patients who had coralliform cataract. METHODS: Patients and all of their available relatives underwent ophthalmic examination and subsequent sequencing of the candidate ge...
| Autores principales: | , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Molecular Vision
2009
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2714775/ https://www.ncbi.nlm.nih.gov/pubmed/19633732 |