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Evaluation of Three Mutations in Codon 385 of Glucose-6-Phosphate Dehydrogenase via Biochemical and In Silico Analysis.

International journal of molecular sciences - 22 Nov 2024

Gálvez-Ramírez Adriana, González-Valdez Abigail, Hernández-Ochoa Beatriz, Canseco-Ávila Luis Miguel, López-Roblero Alexander, Arreguin-Espinosa Roberto, Pérez de la Cruz Verónica, Hernández-Urzua Elizabeth, Cárdenas-Rodríguez Noemi, Enríquez-Flores Sergio, De la Mora-De la Mora Ignacio, Vidal-Limon Abraham, Gómez-Manzo Saúl

Abstract excerpt

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an enzymopathy that affects approximately 500 million people worldwide. A great number of mutations in the G6PD gene have been described. However, three class A G6PD variants known as G6PD Tomah (C385R), G6PD Kangnam (C385G), and G6PD Madrid (C385W) have been reported to be clinically important due to their associations with severe clinical manifestations...

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PMID: 39684266
DOI: 10.3390/ijms252312556
PMCID: PMC11641639

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