A termination mutant prevalent in Norwegian haplotype 7 phenylketonuria genes.

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Article

A termination mutant prevalent in Norwegian haplotype 7 phenylketonuria genes.

American journal of human genetics - 1 Dec 1990

Apold J, Eiken H G, Odland E, Fredriksen A, Bakken A, Lorens J B, Boman H

Abstract excerpt

RFLPs in the phenylalanine hydroxylase (PAH) gene locus were determined in 47 Norwegian nuclear families that had at least one child with phenylketonuria (PKU). The PKU haplotype distribution differed somewhat from that of other European populations. Mutant haplotype 7 is relatively rare in other populations but constituted 20% of all mutant haplotypes in Norway. In 14 of the 17 mutant haplotypes 7, a previously...

Topics

Adolescent
Adult
Base Sequence
Blotting, Southern
Child
Child, Preschool
Female
Genes
Haplotypes
Humans
Infant
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Norway

Pedigree

Phenylalanine Hydroxylase

Phenylketonurias

Source

Open in PubMed Open full text

Identifiers

PMID: 1978553
PMCID: PMC1683913

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1978553-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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