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Integrative identification of the pathogenic role of a novel G6PD missense mutation c.697G>C

BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a hereditary disease caused by pathogenic mutations of G6PD. While most of the pathogenic variants of G6PD have been annotated, hemolysis of unknown etiology but analogous to that in G6PD deficiency persists, implying the existence o...

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Detalles Bibliográficos
Autores principales: Zhang, Hongyang, Peng, Danyi, Shu, Yi, Zhu, Dan, Hu, Weiwei, Yu, Chaowen, Zhang, Juan, Liu, Shan, Wan, Kexing, Yuan, Zhaojian, Liu, Hao, Wang, Dongjuan, Jiang, Tingting, Yu, Jie, Zhang, Penghui, Zou, Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7940930/
https://www.ncbi.nlm.nih.gov/pubmed/33708821
http://dx.doi.org/10.21037/atm-20-3941