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Article

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

Advances in experimental medicine and biology - 1 Jan 1998

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

Abstract excerpt

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Share to Adenine Phosphoribosyltransferase
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Share to Japan

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 9598046
DOI: 10.1007/978-1-4615-5381-6_26

Genes

APRT

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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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.PMID 9598046Read ↗

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

Search for the mechanisms of high incidence of APRT deficiency among Japanese.Semantic proximity Read ↗

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

[Genotype and genetic diagnosis of APRT deficiency].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 ↗

Germline and somatic mutation at the APRT locus of mice and man.Semantic proximity Read ↗

Novel genetic mutations responsible for the HPRT deficiency and the clinical phenotypes in Japanese.Semantic proximity Read ↗

The restriction enzyme Mse I applied for the detection of a possibly common mutation of the APRT locus.Semantic proximity Read ↗

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

Human APRT deficiency: indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair.Semantic proximity Read ↗

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

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