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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 phenylketonuria and allows a comparison between these mouse phenylketonuria models and the human disease. A...

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Source

Identifiers

PMID: 9119379
DOI: 10.1006/geno.1996.4508

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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