Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil
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DOI: 10.1002/mgg3.408
Abstract: Phenylketonuria (PKU) is an autosomal recessive disease resulting from mutations in the PAH gene. Most of the patients are compound heterozygotes, and genotype is a major factor in determining the phenotypic variability of PKU. More… read more here.
Keywords: analysis pah; gene phenylketonuria; rio janeiro; mutation analysis ... See more keywords