Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia.

doi:10.1002/(SICI)1098-1004(1998)11:3<240::AID-HUMU9>3.0.CO;2-L

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Article

Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia.

Human mutation - 1 Jan 1998

Bosco P, Cali F, Meli C, Mollica F, Zammarchi E, Cerone R, Vanni C, Palillo L, Greco D, Romano V

Abstract excerpt

This report identifies eight new mutations of the phenylalanine hydroxylase gene detected in Italian patients with hyperphenylalaninemia. The trivial name of the mutations, predicted phenotypic effect, and population of origin (Italian region) are as follows: F55L (nonconservative change: classic...

Topics

Adolescent
Adult
Child
Child, Preschool
Genetic Heterogeneity
Humans
Italy
Mutation
Phenylalanine
Phenylalanine Hydroxylase
Phenylketonurias
RNA Splicing

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