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https://hdl.handle.net/10316/13583| 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. | URI: | https://hdl.handle.net/10316/13583 | 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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| File | Description | Size | Format | |
|---|---|---|---|---|
| Molecular characterization of five Portuguese.pdf | 159.21 kB | Adobe PDF | View/Open |
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