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Article

Molecular characterization of six unrelated Italian patients affected by pyrimidine 5'-nucleotidase deficiency.

British journal of haematology - 1 Sept 2003

Bianchi Paola, Fermo Elisa, Alfinito Fiorella, Vercellati Cristina, Baserga Mariangiola, Ferraro Filomena, Guzzo Immacolata, Rotoli Bruno, Zanella Alberto

Abstract excerpt

Pyrimidine 5'-nucleotidase deficiency is a rare autosomal recessive disorder characterized by haemolytic anaemia, marked basophilic stippling and accumulation of pyrimidine nucleotides within the erythrocytes. The gene encoding for this enzyme (P5'N-1) has been cloned recently, and seven mutations have so far been identified in 11 unrelated families. We describe the haematological and molecular characteristics of...

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PMID: 12930399
DOI: 10.1046/j.1365-2141.2003.04532.x

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AGT

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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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