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

• Main Authors: Yongqing Tong (Author), Bei Liu (Author), Hongyun Zheng (Author), Anyu Bao (Author), Zegang Wu (Author), Jian Gu (Author), Bi-Hua Tan (Author), Mary McGrath (Author), Shriya Kane (Author), Chunhua Song (Author), Yan Li (Author)
• Format: Book
• Published: BMC, 2020-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...