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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...

Topics

Amino Acid Sequence
Base Sequence
Blotting, Northern
Cloning, Molecular
DNA
Exons
Humans
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Purine-Nucleoside Phosphorylase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

RNA Processing, Post-Transcriptional

RNA Splicing

RNA, Messenger

Severe Combined Immunodeficiency

Source

Identifiers

PMID: 1560016

Genes

PNP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1560016-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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