Article
Frequencies of phenylalanine hydroxylase mutations I65T, R252W, R261Q, R261X, IVS10nt11, V388M, R408W, Y414C, and IVS12nt1 in Minas Gerais, Brazil.
Genetics and molecular research : GMR - 31 Mar 2006
Santos Luciana Lara dos, Magalhães Myrian de Castro, Reis Adriana de Oliveira, Starling Ana Lúcia Pimenta, Januário José Nélio, Fonseca Cleusa Graça da, Aguiar Marcos José Burle de, Carvalho Maria Raquel Santos
Abstract excerpt
In order to determine the phenylketonuria (PKU) mutation spectrum in the population of Minas Gerais State, Brazil, 78 unrelated PKU patients found by the neonatal screening program from 1993 to 2003 were tested for nine phenylalanine hydroxylase mutations. These mutations were selected due to their high frequencies in other Brazilian populations and in Portugal, where the largest contingent of the Caucasian...
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