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Article

Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient.

American journal of human genetics - 1 Dec 1991

Chen J, Sahota A, Laxdal T, Scrine M, Bowman S, Cui C, Stambrook P J, Tischfield J A

Abstract excerpt

We have completely sequenced the adenine phosphoribosyltransferase (APRT) gene from each of six patients--five (I-V) from Iceland and one (VI) from Britain. Cases I and II shared a common ancestor six and seven generations ago, and cases I and V shared a common ancestor seven generations ago, but...

Topics

Adenine Phosphoribosyltransferase
Adult
Amino Acid Sequence
Base Sequence
Child, Preschool
Female
Genes
Humans
Iceland
Infant
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

United Kingdom

Source

Open in PubMed Open full text

Identifiers

PMID: 1746557
PMCID: PMC1686459

Genes

APRT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1746557-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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