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Table 2 G6PD enzyme activities in samples with the heterozygous G6PD Mediterranean variants

From: High resolution melting curve analysis enables rapid and reliable detection of G6PD variants in heterozygous females

Mutations

Exons

Amino acid substitution

Enzyme activity U/g Hb

Enzyme activity compared to cut off (%)

c.C563T#

Exon 6

p. Ser188Phe

3.52

52.19% ↓

c.C563T#

Exon 6

p. Ser188Phe

11.89

38.02% ↑

  1. #indicates heterozygous variants; ↓ indicates lower; ↑ indicates higher
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BMC Genomic Data

ISSN: 2730-6844

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