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Article

Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.

The Journal of clinical investigation - 1 Jul 1992

Kamatani N, Hakoda M, Otsuka S, Yoshikawa H, Kashiwazaki S

Abstract excerpt

We analyzed mutant alleles of adenine phosphoribosyltransferase (APRT) deficiency in Japanese patients. Among 141 defective APRT alleles from 72 different families, 96 (68%), 30 (21%), and 10 (7%) had an ATG to ACG missense mutation at codon 136 (APRT*J allele), TGG to TGA nonsense mutation at codon 98, and duplication of a 4-bp sequence in exon 3, respectively. The disease-causing mutations of only four (3%) of...

Topics

Adenine Phosphoribosyltransferase
Alleles
Asian People
Base Sequence
Blotting, Southern
Humans
Japan
Molecular Sequence Data
Mutation
Nucleic Acid Hybridization
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Restriction Fragment Length

Source

Open in PubMed Open full text

Identifiers

PMID: 1353080
DOI: 10.1172/JCI115825
PMCID: PMC443071

Genes

APRT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1353080-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.PMID 1353080Read ↗

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Detection of the three common mutations of adeninephosphoribosyltransferase deficiency among Japanese.Semantic proximity Read ↗

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Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.Semantic proximity Read ↗

A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.Semantic proximity Read ↗

[Genotype and genetic diagnosis of APRT deficiency].Semantic proximity Read ↗

Detection of the most common mutation of adenine phosphoribosyltransferase deficiency among Japanese by a non-radioactive method.Semantic proximity Read ↗

[Adenine phosphoribosyltransferase(APRT) deficiency].Semantic proximity Read ↗

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The origin of APRT*J. The most common disease-related mutation of APRT gene among Japanese goes back to a prehistoric era.Semantic proximity Read ↗

Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency.Semantic proximity Read ↗

A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.Semantic proximity Read ↗

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