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Article

Detection of the three common mutations of adeninephosphoribosyltransferase deficiency among Japanese.

Clinica chimica acta; international journal of clinical chemistry - 31 Jan 1995

Higashimoto H, Ouchi A, Kawaguchi R

Abstract excerpt

We analyzed DNA from six Japanese patients with adenine phosphoribosyltransferase (APRT) deficiency who developed 2,8-dihydroxyadenine (DHA) urolithiasis. These six patients were selected for DNA analysis since they were expected to possess allele(s) with mutations other than two known abnormalities, i.e. a missense mutation at codon 136 (APRT*J allele) and a nonsense mutation at codon 98. In three of the six...

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Source

Identifiers

PMID: 7758207
DOI: 10.1016/0009-8981(94)05967-w

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

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Research trail→

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Detection of the three common mutations of adeninephosphoribosyltransferase deficiency among Japanese.PMID 7758207Read ↗

Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis.Semantic proximity Read ↗

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

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

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

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

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

Allele frequency of variants reported to cause 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 ↗

Mutational basis of adenine phosphoribosyltransferase deficiency.Semantic proximity Read ↗

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

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