Article
Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria.
Human mutation - 1 Feb 2001
Acosta A, Silva W, Carvalho T, Gomes M, Zago M
Abstract excerpt
In the present study, 115 Brazilian families with phenylketonuria (PKU), mainly from the Southeast of the country, were studied using three laboratory methods (DGGE, SSCP, and sequencing). All 13 exons of the PAH gene were analyzed, including the splicing sites and the promoter region. We identified 50 distinct mutations and characterized 91% of the mutant alleles. The five most prevalent mutations of the 50...
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