[Genetic Mutation Characteristics of Glucose-6-Phosphate Dehydrogenase Deficiency Patients in Wuhan].

doi:10.19746/j.cnki.issn.1009-2137.2022.01.041

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Article

[Genetic Mutation Characteristics of Glucose-6-Phosphate Dehydrogenase Deficiency Patients in Wuhan].

Zhongguo shi yan xue ye xue za zhi - 1 Feb 2022

Li Hui, Jiang Yu-Fei, Gao Tang-Xin-Zi, Yi Me-Qi, Wang Xiao-Yan, Xu Run-Hong, Song Jie-Ping, Liu Li-Jun

Abstract excerpt

OBJECTIVE: To explore the genotype mutation characteristics of patients with glucose-6-phosphate dehydrogenase(G6PD) deficiency in Wuhan. METHODS: A total of 1 321 neonates with positive screening and outpatients were received G6PD mutation detection, 12 kinds of common G6PD mutation in Chinese people was detected by using multicolor melting curve analysis (MMCA) method, for those with negative results, the...

Topics

Asian People
Female
Genotype
Glucosephosphate Dehydrogenase
Glucosephosphate Dehydrogenase Deficiency
Heterozygote
Humans
Infant, Newborn
Male
Mutation

Source

Open in PubMed

Identifiers

PMID: 35123635
DOI: 10.19746/j.cnki.issn.1009-2137.2022.01.041

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