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Article

Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency revealed by single-strand conformation and sequence analysis.

American journal of human genetics - 1 Mar 1993

Calabrò V, Mason P J, Filosa S, Civitelli D, Cittadella R, Tagarelli A, Martini G, Brancati C, Luzzatto L

Abstract excerpt

We have carried out a systematic study of the molecular basis of glucose-6-phosphate dehydrogenase (G6PD) deficiency on a sample of 53 male subjects from Calabria, in southern Italy. Our sequential approach consisted of the following steps: (1) Partial biochemical characterization was used to pinpoint candidate known variants. The identity of these was then verified by restriction-enzyme or allele-specific...

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PMID: 8447319
PMCID: PMC1682169

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