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Article

Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency.

The Journal of biological chemistry - 15 Apr 1992

Andrews L G, Markert M L

Abstract excerpt

We report a defect in splicing of precursor messenger RNA (pre-mRNA) resulting from a naturally occurring mutation of the gene encoding purine nucleoside phosphorylase (PNP) in a patient with PNP-deficient severe combined immunodeficiency. This defects results from a G to T transversion at the terminal nucleotide of exon 2 within the 5' splice site of intron 2 and causes skipping of exon 2 during processing of...

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Identifiers

PMID: 1560016

Genes

PNP

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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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