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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 region from haplotyped PAH chromosomes indicates that the previously reported 4.0-kb HindIII allele contains three of...

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Identifiers

PMID: 1353941
PMCID: PMC1682705

Genes

PAH

Variants

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Source receipt: pubmed, retrieved 7 Sept 2026.

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