Molecular characterization of five Portuguese patients with pyrimidine 5'-nucleotidase deficient hemolytic anemia showing three new P5'N-I mutations.
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.
Manco
Licínio
L
Relvas
Luís
L
Silva Pinto
C
C
Pereira
Janet
J
Almeida
A Bessa
AB
Ribeiro
M Letícia
ML
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
D015720:5'-Nucleotidase