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A novel G6PD gene variant in a Chinese girl with favism

BACKGROUND: Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. The human G6PD gene is highly polymorphic, and over 200 mutations have been identified, many of which are associated with hemolytic anemia. Here, we analyzed the clinical genetics data of a Chinese...

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Detalles Bibliográficos
Autores principales: Shen, Shanshan, Xiong, Qian, Cai, Wenqian, Xiong, Hao, Hu, Xijiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7521235/
https://www.ncbi.nlm.nih.gov/pubmed/32557798
http://dx.doi.org/10.1002/jcla.23402