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Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: ...
Manco, Licínio; Gonçalves, Paula; Antunes, Patrícia; Maduro, Filomena; Abade, Augusto; Ribeiro, M. LetíciaG6PD deficiency mutational profile and haplotype diversity using 6 RFLPs (FokI/PvuII/BspHI/ PstI/BclI/NlaIII) and a (CTT)n microsatellite, were investigated in 70 G6PD-deficient Portuguese individuals. All but one G6PD A-376G/202A variants (44/45) have a single haplotype (+/+/–/+/–/+/195). G6PD Betica376G/968C alleles (n=10) have a single RFLP haplotype (+/–/–/+/–/+) and 4 different (CTT)n repeats. Age estimate...
Molecular characterization of five Portuguese patients with pyrimidine 5’-nucle...
Manco, Licínio; Relvas, Luís; Pinto, C. Silva; Pereira, Janet; Almeida, A. Bessa; Ribeiro, M. LetíciaFour 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 rep...
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