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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...
Autores principales: | Chamchoy, Kamonwan, Sudsumrit, Sirapapha, Wongwigkan, Jutamas, Petmitr, Songsak, Songdej, Duantida, Adams, Emily R., Edwards, Thomas, Leartsakulpanich, Ubolsree, Boonyuen, Usa |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2023
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Materias: | |
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 |
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