A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency

BACKGROUND: Glucose-6-phosphate dehydrogenase deficiency (D-G6PD) is an X-linked recessive disorder resulted from deleterious variants in the housekeeping gene Glucose-6-phosphate 1-dehydrogenase (G6PD), causing impaired response to oxidizing agents. Screening for new variations of the gene helps wi...

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Publicado no:BMC Med Genet
Main Authors: Tong, Yongqing, Liu, Bei, Zheng, Hongyun, Bao, Anyu, Wu, Zegang, Gu, Jian, Tan, Bi-Hua, McGrath, Mary, Kane, Shriya, Song, Chunhua, Li, Yan
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7367331/
https://ncbi.nlm.nih.gov/pubmed/32680472
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01090-2
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