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  • Title: Molecular characterization of five Portuguese patients with pyrimidine 5'-nucleotidase deficient hemolytic anemia showing three new P5'N-I mutations.
    Author: Manco L, Relvas L, Silva Pinto C, Pereira J, Almeida AB, Ribeiro ML.
    Journal: Haematologica; 2006 Feb; 91(2):266-7. PubMed ID: 16461318.
    Abstract:
    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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