Article
Molecular characterization of phenylketonuria in South Brazil.
Molecular genetics and metabolism - 1 May 2003
Santana da Silva Luiz Carlos, Carvalho Tiago Santos, da Silva Fernanda Britto, Morari Liana, Fachel Angela Aguirres, Pires Ricardo, Refosco Lília Farret, Desnick Robert J, Giugliani Roberto, Saraiva Pereira Maria Luiza
Abstract excerpt
Phenylketonuria (PKU) is an autosomal recessive disorder due to phenylalanine hydroxylase (PAH) deficiency. The PAH gene, located at 12q22-q24.1, includes about 90kb and contains 13 exons. To date, more than 420 different alterations have been identified in the PAH gene. To determine the nature and frequency of PAH mutations in PKU patients from South Brazil, mutation analysis was performed on genomic DNA from 23...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.