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

Abstract 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...

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Hlavní autoři: Yongqing Tong (Autor), Bei Liu (Autor), Hongyun Zheng (Autor), Anyu Bao (Autor), Zegang Wu (Autor), Jian Gu (Autor), Bi-Hua Tan (Autor), Mary McGrath (Autor), Shriya Kane (Autor), Chunhua Song (Autor), Yan Li (Autor)
Médium: Kniha
Vydáno: BMC, 2020-07-01T00:00:00Z.
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