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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
Authors: Manco, Licínio 
Relvas, Luís 
Pinto, C. Silva 
Pereira, Janet 
Almeida, A. Bessa 
Ribeiro, M. Letícia 
Keywords: Pyrimidine 5’-nucleotidase deficiency; Hemolytic anemia; P5’N-I gene; Alu insertion; RT-PCR analysis
Issue Date: 2006
Publisher: Ferrata Storti Foundation
Citation: Haematologica. 91:2 (2006) 266-267
Serial title, monograph or event: Haematologica
Issue: 2
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 (168 Gly®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.
ISSN: 0390-6078
Rights: openAccess
Appears in Collections:I&D CIAS - Artigos em Revistas Internacionais
FCTUC Ciências da Vida - Artigos em Revistas Internacionais

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