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Article

Two distinct mutations at a single BamHI site in phenylketonuria.

Journal of medical genetics - 1 Jan 1991

Melle D, Verelst P, Rey F, Berthelon M, François B, Munnich A, Lyonnet S

Abstract excerpt

Classical phenylketonuria is an autosomal recessive disease caused by a deficiency of hepatic phenylalanine hydroxylase (PAH). The abolition of an invariant BamHI site located in the coding sequence of the PAH gene (exon 7) led to the recognition of two new point mutations at codon 272 and 273 (272gly----stop and 273ser----phe, respectively). Both mutations were detected in north eastern France or Belgium and...

Topics

Base Sequence
Blotting, Southern
Chromosome Mapping
Chromosomes, Human, Pair 12
Deoxyribonuclease BamHI
Exons
Female
Genes, Recessive
Genotype
Humans
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Phenylalanine Hydroxylase

Phenylketonurias

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Source

Open in PubMed Open full text

Identifiers

PMID: 1671881
DOI: 10.1136/jmg.28.1.38
PMCID: PMC1016745

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1671881-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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