Article
A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria.
Human genetics - 1 Feb 1993
Weinstein M, Eisensmith R C, Abadie V, Avigad S, Lyonnet S, Schwartz G, Munnich A, Woo S L, Shiloh Y
Abstract excerpt
The majority of hyperphenylalaninemias (HPAs) result from mutations at the gene for phenylalanine hydroxylase (PAH). The broad phenotypic variability of these conditions, ranging from phenylketonuria (PKU) to mild benign HPA, is underlain by a wide spectrum of mutations giving rise to various genotypic combinations. Mutant PAH alleles, labeled by specific polymorphic haplotypes and mutations, are becoming useful...
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