Haematologica
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Haematologica, Vol 91, Issue 2, 266-267
Copyright © 2006 by Ferrata Storti Foundation

Letter

Molecular characterization of five Portuguese patients with pyrimidine 5'-nucleotidase deficient hemolytic anemia showing three new P5'N-I mutations

L Manco, L Relvas, C Silva Pinto, J Pereira, AB Almeida, and ML Ribeiro

Four different gene mutations were identified in five unrelated Portuguese patients with pyrimidine 5'-nucleotidase type I (P5'N-I) deficient chronic hemolytic anemia. Mutations 502G-->C (168Gly-->Arg), 773T-->C (258Ile-->Thr) and the insertion of an Alu element in exon 9, leading to skipping of this exon in the mRNA transcript, are newly described mutations whereas mutation 425T-->C (142Leu-->Pro) has been previously reported.


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