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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Molecular Vision 2011
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3159680/
https://ncbi.nlm.nih.gov/pubmed/21866214
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