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Article

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

Hinyokika kiyo. Acta urologica Japonica - 1 Jun 1992

Kaneko Y, Takeuchi H, Takenawa J, Yoshida O, Takano S, Fujita J

Abstract excerpt

Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis is a rapid and sensitive method to identify point mutations in a given sequence of genomic DNA. We tried to apply the PCR-SSCP to the diagnosis of adenine phosphoribosyltransferase (APRT) deficiency, which is an autosomal recessive hereditary disease leading to 2,8-dihydroxyadenine urolithiasis. Genomic APRT genes, with or...

Topics

Adenine Phosphoribosyltransferase
Genotype
Humans
Mutation
Polymerase Chain Reaction
Polymorphism, Genetic

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 1632317

Genes

APRT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1632317-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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[Detection of mutant adenine phosphoribosyltransferase genes by polymerase chain reaction-single strand conformation polymorphism analysis].PMID 1632317Read ↗

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

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

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

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

Polymerase chain reaction amplification and sequence analysis of human mutant adenine phosphoribosyltransferase genes: the nature and frequency of errors caused by Taq DNA polymerase.Semantic proximity Read ↗

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

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

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Identification of a 7-basepair deletion in the adenine phosphoribosyltransferase gene as a cause of 2,8-dihydroxyadenine urolithiasis.Semantic proximity Read ↗

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