Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene.

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Article

Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene.

American journal of human genetics - 1 Jan 1990

Okano Y, Wang T, Eisensmith R C, Steinmann B, Gitzelmann R, Woo S L

Abstract excerpt

We report missense mutations associated with haplotype 1 and haplotype 4 alleles of the human phenylalanine hydroxylase (PAH) gene. Individual exon-containing regions were amplified by polymerase chain reaction from genomic DNA of a PKU patient who was a haplotype 1/4 compound heterozygote. The amplified DNA fragments were subcloned into M13 for sequence analysis. Missense mutations were observed in exons 5 and...

Topics

Base Sequence
Child
Child, Preschool
DNA
Exons
Female
Haplotypes
Humans
Infant
Male
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nucleic Acid Hybridization

Pedigree

Phenotype

Phenylalanine Hydroxylase

Phenylketonurias

Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 1967207
PMCID: PMC1683547

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1967207-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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