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Article

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

American journal of human genetics - 1 Jan 1991

Mimori A, Hidaka Y, Wu V C, Tarlé S A, Kamatani N, Kelley W N, Pallela T D

Abstract excerpt

Adenine phosphoribosyltransferase (APRT) deficiency is a genetic disorder which causes 2,8-dihydroxy-adenine urolithiasis. The estimated incidence of heterozygosity in Caucasian and Japanese populations is 1%. Mutant alleles responsible for the disease have been classified as APRT*Q0 (type I) and APRT* (type II). In our previous study, we demonstrated in APRT*J a single common base change which accounts for 70%...

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Source

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Identifiers

PMID: 1985452
PMCID: PMC1682758

Genes

APRT

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.PMID 1985452Read ↗

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

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

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

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

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

Mutational basis of adenine phosphoribosyltransferase 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 ↗

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

Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis.Semantic proximity Read ↗

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

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

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