Article
The stability of G6PD is affected by mutations with different clinical phenotypes.
International journal of molecular sciences - 17 Nov 2014
Gómez-Manzo Saúl, Terrón-Hernández Jessica, De la Mora-De la Mora Ignacio, González-Valdez Abigail, Marcial-Quino Jaime, García-Torres Itzhel, Vanoye-Carlo America, López-Velázquez Gabriel, Hernández-Alcántara Gloria, Oria-Hernández Jesús, Reyes-Vivas Horacio, Enríquez-Flores Sergio
Abstract excerpt
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency worldwide, causing a wide spectrum of conditions with severity classified from the mildest (Class IV) to the most severe (Class I). To correlate mutation sites in the G6PD with the resulting phenotypes, we studied four naturally occurring G6PD variants: Yucatan, Nashville, Valladolid and Mexico City. For this purpose, we...
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