Two novel PAH gene mutations detected in Italian phenylketonuric patients.

doi:10.1007/s004390050353

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Article

Two novel PAH gene mutations detected in Italian phenylketonuric patients.

Human genetics - 1 Feb 1997

Argiolas A, Bosco P, Calì F, Ceratto N, Anello G, Riva E, Biasucci G, Carducci C, Romano V

Abstract excerpt

We report the identification by denaturing gradient gel electrophoresis and sequence analysis of two new phenylalanine hydroxylase (PAH) gene mutations (IVS4nt-2 and N207S) in single chromosomes of two unrelated Italian phenylketonuric (PKU) patients. Interestingly, mutation Y204C, found on the s...

Topics

Child
Female
Humans
Italy
Male
Mutation
Phenylalanine Hydroxylase
Phenylketonurias
Polymorphism, Genetic

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