title: Molecular characterization of five Portuguese patients with pyrimidine 5'-nucleotidase deficient hemolytic anemia showing three new P5'N-I mutations.
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.
authors.forename: Licínio
authors.initials: L
authors.lastname: Manco
authors.forename: Luís
authors.initials: L
authors.lastname: Relvas
authors.forename: C
authors.initials: C
authors.lastname: Silva Pinto
authors.forename: Janet
authors.initials: J
authors.lastname: Pereira
authors.forename: A Bessa
authors.initials: AB
authors.lastname: Almeida
authors.forename: M Letícia
authors.initials: ML
authors.lastname: Ribeiro
mesh_terms: D015720:5'-Nucleotidase / Q000172:deficiency / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D000743:Anemia, Hemolytic / Q000201:enzymology / Q000235:genetics*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011174:Portugal
chemical_list: D015720:5'-Nucleotidase