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Article

Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency.

Nucleic acids research - 11 Oct 1990

Sahota A, Chen J, Asaki K, Takeuchi H, Stambrook P J, Tischfield J A

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Identifiers

PMID: 1977137
DOI: 10.1093/nar/18.19.5915
PMCID: PMC332361

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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→

Click a neighbor to travelStep 1 · 12 closest

Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency.PMID 1977137Read ↗

Mutational basis of adenine phosphoribosyltransferase deficiency.Semantic proximity Read ↗

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

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

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

Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency.Semantic proximity Read ↗

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

[Adenine phosphoribosyltransferase deficiency].Semantic proximity Read ↗

Novel genetic mutations responsible for the HPRT deficiency and the clinical phenotypes in Japanese.Semantic proximity Read ↗

A novel splicing abnormality in a Japanese patient with Gaucher's disease.Semantic proximity Read ↗

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

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