Article

G6PD Potenza: A Novel Pathogenic Variant Broadens the Mutational Landscape in the Italian Population

2024-09-05

Abstract excerpt

<h4>Background: </h4> G6PD is a rate-limiting enzyme of the pentose phosphate pathway. The loss of G6PD activity in red blood cells exposes to the risk of acute haemolytic anaemia under oxidative stress, induced by infections, some medications, or fava beans. More than 200 single missense mutations are known in the G6PD gene. This study reports a 41-year-old woman coming from Basilicata region (Italy) that carried...

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Literature Corpus work: 89fca1f3-0158-5b8b-b9e7-1ddf897a2463
DOI: 10.20944/preprints202409.0406.v1

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