Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene.

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Article

Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene.

American journal of human genetics - 1 Sept 1992

Goltsov A A, Eisensmith R C, Konecki D S, Lichter-Konecki U, Woo S L

Abstract excerpt

The HindIII RFLP in the human phenylalanine hydroxylase (PAH) gene is caused by the presence of an AT-rich (70%) minisatellite region. This region contains various multiple of 30-bp tandem repeats and is located 3 kb downstream of the final exon of the gene. PCR-mediated amplification of this reg...

Topics

Base Sequence
Humans
Molecular Sequence Data
Mutation
Oligodeoxyribonucleotides
Phenylalanine Hydroxylase
Phenylketonurias
Plasmids
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Repetitive Sequences, Nucleic Acid
Restriction Mapping

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PMID: 1353941
PMCID: PMC1682705

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1353941-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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