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

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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Bibliographic Details
Main Authors: Yongqing Tong, Bei Liu, Hongyun Zheng, Anyu Bao, Zegang Wu, Jian Gu, Bi-Hua Tan, Mary McGrath, Shriya Kane, Chunhua Song, Yan Li
Format: Article
Language:English
Published: BMC 2020-07-01
Series:BMC Medical Genetics
Subjects:
D-G6PD
Variant
Neonatal jaundice
Infant
Online Access:http://link.springer.com/article/10.1186/s12881-020-01090-2

Internet

http://link.springer.com/article/10.1186/s12881-020-01090-2

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