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Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families

PURPOSE: Congenital cataracts are one of the most treatable causes of visual impairment and blindness during infancy. Approximately 50% of all congenital cataract cases may have a genetic cause. Once there is an intimate relationship between crystallin genes and lens transparency, they are excellent...

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Detalles Bibliográficos
Autores principales: Santana, Alessandro, Waiswol, Mauro, Arcieri, Enyr Saran, Cabral de Vasconcellos, José Paulo, Barbosa de Melo, Mônica
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2671581/
https://www.ncbi.nlm.nih.gov/pubmed/19390652