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Article

The phenylalanine hydroxylase locus: a marker for the history of phenylketonuria and human genetic diversity. PAH Mutation Analysis Consortium.

Ciba Foundation symposium - 1 Jan 1996

Scriver C R, Byck S, Prevost L, Hoang L

Abstract excerpt

Disease-producing allelic variation describes one aspect of human genetic diversity. Phenylketonuria, the major type of hyperphenylalaninaemia and formerly a functional genetic lethal, has a 2% carrier frequency in temperate-zone populations. Newborn screening for hyperphenylalaninaemia (incidenc...

Topics

Genetic Markers
Genetic Testing
Genetic Variation
Haplotypes
Humans
Mutation
Phenylalanine Hydroxylase
Phenylketonurias
Polymorphism, Genetic
Quebec

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 8827369
DOI: 10.1002/9780470514887.ch5

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8827369-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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