Article
Correlation between genotype and phenotype in primary open angle glaucoma of Brazilian families with mutations in exon 3 of the TIGR/MYOC gene.
Arquivos brasileiros de oftalmologia - 1 Jan 2000
Povoa Cristine Araújo, Malta Roberto Freire Santiago, Rezende Mariana de Moraes, de Melo Karla Fabiana Santana, Giannella-Neto Daniel
Abstract excerpt
PURPOSE: To investigate the phenotype of primary open-angle glaucoma (POAG) in Brazilian families with mutation in exon 3 of TIGR/MYOC. METHODS: Seventy-eight POAG patients with a positive family history and eighteen unrelated patients with POAG were screened by automated DNA sequencing for mutations in exon 3 of the TIGR/MYOC gene. The pedigrees of POAG patients with mutations that lead to amino acid change were...
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