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Article

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

Human mutation - 1 Jan 1994

Sahota A, Chen J, Bye S, Jaing J, Berenyi M, Fekete G, Tischfield J A

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Share to Adenine Phosphoribosyltransferase
Share to Alleles
Share to Base Sequence
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Deoxyribonucleases, Type II Site-Specific

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Source

Identifiers

PMID: 7912608
DOI: 10.1002/humu.1380030324

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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.

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