[Mutation analysis of the PAH gene in children with phenylketonuria from the Qinghai area of China].

OBJECTIVE To study the mutation characteristics of the phenylalanine hydroxylase (PAH) gene in children with phenylketonuria (PKU) from the Qinghai area of China, in order to provide basic information for genetic counseling and prenatal diagnosis. METHODS Mutations of the PAH gene were detected in the promoter and exons 1-13 and their flanking intronic… CONTINUE READING