Molecular characterization of G6PD mutations identifies new mutations and a high frequency of intronic variants in Thai females

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked enzymopathy caused by mutations in the G6PD gene. A medical concern associated with G6PD deficiency is acute hemolytic anemia induced by certain foods, drugs, and infections. Although phenotypic tests can correctly identify hemizygou...

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Detalles Bibliográficos
Autores principales: Chamchoy, Kamonwan, Sudsumrit, Sirapapha, Wongwigkan, Jutamas, Petmitr, Songsak, Songdej, Duantida, Adams, Emily R., Edwards, Thomas, Leartsakulpanich, Ubolsree, Boonyuen, Usa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10651042/
https://www.ncbi.nlm.nih.gov/pubmed/37967096
http://dx.doi.org/10.1371/journal.pone.0294200

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10651042/
https://www.ncbi.nlm.nih.gov/pubmed/37967096
http://dx.doi.org/10.1371/journal.pone.0294200

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