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Genetic polymorphism of G6PD in a Bulgarian population

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Summary

Considerable genetic heterogeneity in G6PD was found in the Bulgarian population-14 G6PD variants isolated from 117 hemizygous carriers of G6PD deficiency. Of these, G6PD Mediterranean type was a polymorphic variant and G6PD Corinth occured with high frequency. Two new variants were identified-G6PD Rudosem and G6PD Nedelino. In a selected group of 78 subjects with clinical manifestations, four variants were established: G6PD Mediterranian, G6PD Corinth, G6PD Seattle and G6PD Ohut II.

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Toncheva, D., Tzoneva, M. Genetic polymorphism of G6PD in a Bulgarian population. Hum Genet 67, 340–342 (1984). https://doi.org/10.1007/BF00291365

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