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Article

Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency.

Blood - 1 Jun 2001

Marinaki A M, Escuredo E, Duley J A, Simmonds H A, Amici A, Naponelli V, Magni G, Seip M, Ben-Bassat I, Harley E H, Thein S L, Rees D C

Abstract excerpt

Pyrimidine 5' nucleotidase (P5'N-1) deficiency is an autosomal recessive condition causing hemolytic anemia characterized by marked basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. It is implicated in the anemia of lead poisoning and is possibly associated with learning difficulties. Recently, a protein with P5'N-1 activity was analyzed and a...

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PMID: 11369620
DOI: 10.1182/blood.v97.11.3327

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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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