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

A M Marinaki et al.

Blood, 97(11), 3327-3332 (2001-05-23)

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

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