Characterization of mutations at the mouse phenylalanine hydroxylase locus.

doi:10.1006/geno.1996.4508

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Article

Characterization of mutations at the mouse phenylalanine hydroxylase locus.

Genomics - 1 Feb 1997

McDonald J D, Charlton C K

Abstract excerpt

Two genetic mouse models for human phenylketonuria have been characterized by DNA sequence analysis. For each, a distinct mutation was identified within the protein coding sequence of the phenylalanine hydroxylase gene. This establishes that the mutated locus is the same as that causing human phe...

Topics

Animals
Disease Models, Animal
Humans
Mice
Mutation
Phenylalanine Hydroxylase
Phenylketonurias
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational

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