Novel human CRYGD rare variant in a Brazilian family with congenital cataract

PURPOSE: To describe a novel polymorphism in the γD-crystallin (CRYGD) gene in a Brazilian family with congenital cataract. METHODS: A Brazilian four-generation family was analyzed. The proband had bilateral lamellar cataract and the phenotypes were classified by slit lamp examination. Genomic DNA w...

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Detalles Bibliográficos
Autores principales: de Figueirêdo, Eugênio Santana, Giordano, Gabriel Gorgone, Tavares, Anderson, da Silva, Márcio José, de Vasconcellos, José Paulo Cabral, Arieta, Carlos Eduardo Leite, de Melo, Mônica Barbosa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3159680/
https://www.ncbi.nlm.nih.gov/pubmed/21866214

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3159680/
https://www.ncbi.nlm.nih.gov/pubmed/21866214

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