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Article

Molecular characterization of Turkish patients with pyrimidine 5' nucleotidase-I deficiency.

Blood - 1 Sept 2003

Balta Gunay, Gumruk Fatma, Akarsu Nurten, Gurgey Aytemiz, Altay Cigdem

Abstract excerpt

Pyrimidine 5' nucleotidase-I (P5N-I) deficiency is a rare autosomal recessive disorder associated with hemolytic anemia, marked basophilic stippling, and accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Recently, the structure and location of the P5N-I gene have been published. This paper presents the results of a study characterizing the molecular pathologies of P5N-I...

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Source

Identifiers

PMID: 12714505
DOI: 10.1182/blood-2003-02-0628

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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