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Article

Germline and somatic mutations leading to adenine phosphoribosyltransferase (APRT) deficiency.

Advances in experimental medicine and biology - 1 Jan 1991

Hakoda M, Kamatani N, Ohtsuka S, Kashiwazaki S

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

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Source

Identifiers

PMID: 1781412
DOI: 10.1007/978-1-4615-7703-4_19

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.

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Germline and somatic mutations leading to adenine phosphoribosyltransferase (APRT) deficiency.PMID 1781412Read ↗

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[Adenine phosphoribosyltransferase deficiency].Semantic proximity Read ↗

A splice mutation at the adenine phosphoribosyltransferase locus detected in a German family.Semantic proximity Read ↗

Phenotype and genotype characterization of adenine phosphoribosyltransferase 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 ↗

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

Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadeninuria.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 ↗

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

Identification of distinct PRS1 mutations in two patients with X-linked phosphoribosylpyrophosphate synthetase superactivity.Semantic proximity Read ↗

Adenine phosphoribosyltransferase deficiency.Semantic proximity Read ↗

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