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Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: an overview on the origin and evolution of mutated alleles.

Haematologica - 1 Dec 2007

Manco Licínio, Gonçalves Paula, Antunes Patrícia, Maduro Filomena, Abade Augusto, Ribeiro M Letícia

Abstract excerpt

G6PD 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 Betica(376G/968C) alleles (n=10) have a single RFLP haplotype (+/-/-/+/-/+) and 4 different (CTT)(n) repeats. Age...

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PMID: 18056001
DOI: 10.3324/haematol.11670

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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