Molecular characterization of five Portuguese patients with pyrimidine 5’-nucle...

• Author(s): Manco, Licínio ; Relvas, Luís ; Pinto, C. Silva ; Pereira, Janet ; Almeida, A. Bessa ; Ribeiro, M. Letícia
• Date: 2006
• Persistent ID: http://hdl.handle.net/10316/13583
• Origin: Estudo Geral - Universidade de Coimbra
• Subject(s): Pyrimidine 5’-nucleotidase deficiency; Hemolytic anemia; P5’N-I gene; Alu insertion; RT-PCR analysis
• Document Type: Article
• Language: English

Description

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.