Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Genotype and genetic diagnosis of APRT deficiency].

Nihon rinsho. Japanese journal of clinical medicine - 1 Dec 1992

Hakoda M, Kamatani N

Abstract excerpt

Adenine phosphoribosyltransferase (APRT) deficiency is one of the most common genetic diseases among the Japanese and is transmitted in an autosomal recessive manner. Urolithiasis is a typical symptom of this disease. Molecular analysis of the deficient APRT alleles revealed that 96% of disease-causing genes among the Japanese was accounted for only three alleles. Therefore, genetic diagnosis can be performed on...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adenine Phosphoribosyltransferase
Share to Alleles
Share to Asian People

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

Share to Chromosome Mapping

Share to Genes, Recessive

Share to Mutation

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 1491461

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Genotype and genetic diagnosis of APRT deficiency].PMID 1491461Read ↗

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

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

[Detection of mutant adenine phosphoribosyltransferase genes by polymerase chain reaction-single strand conformation polymorphism analysis].Semantic proximity Read ↗

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

[The first case of adenine phosphoribosyltransferase deficiency with APRT Q0 (M1V) mutation in Japan].Semantic proximity Read ↗

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

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

Mutational basis of adenine phosphoribosyltransferase deficiency.Semantic proximity Read ↗

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

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

[Adenine phosphoribosyltransferase deficiency and its purine metabolism].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 ↗

⌁Select a neighboring publication to make it the new centre.