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Article

Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency.

American journal of human genetics - 1 Oct 1992

Aust M R, Andrews L G, Barrett M J, Norby-Slycord C J, Markert M L

Abstract excerpt

Purine nucleoside phosphorylase (PNP) deficiency is an inherited autosomal recessive disorder resulting in severe combined immunodeficiency. The purpose of this study was to determine the molecular defects responsible for PNP deficiency in one such patient. The patient's PNP cDNA was amplified by PCR and sequenced. Point mutations leading to amino acid substitutions were found in both alleles. One point mutation...

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Identifiers

PMID: 1384322
PMCID: PMC1682776

Genes

PNP

Provenance

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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