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Article

The origin of the most common mutation of adenine phosphoribosyltransferase among Japanese goes back to a prehistoric era.

Human genetics - 1 Nov 1996

Kamatani N, Terai C, Kim S Y, Chen C L, Yamanaka H, Hakoda M, Totokawa S, Kashiwazaki S

Abstract excerpt

The incidence of adenine phosphoribosyltransferase (APRT) deficiency is higher among Japanese nationals than among other ethnic groups, and the most common mutation (APRT*J, ATG to ACG mutation at codon 136) accounts for 68% of the disease-causing genes among Japanese. To investigate the origin of these mutations, we studied the geographical distribution of the mutant genes in Japan. The APRT*J mutation is...

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Source

Identifiers

PMID: 8882882
DOI: 10.1007/s004390050266

Genes

APRT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The origin of the most common mutation of adenine phosphoribosyltransferase among Japanese goes back to a prehistoric era.PMID 8882882Read ↗

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

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 ↗

Mutational basis of adenine phosphoribosyltransferase deficiency.Semantic proximity Read ↗

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

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

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

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

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

Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation.Semantic proximity Read ↗

Germline and somatic mutations leading to adenine phosphoribosyltransferase (APRT) deficiency.Semantic proximity Read ↗

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