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Article

G6PD-MutDB: a mutation and phenotype database of glucose-6-phosphate (G6PD) deficiency.

Journal of bioinformatics and computational biology - 1 Dec 2010

Zhao Xin, Li Zuofeng, Zhang Xiaoyan

Abstract excerpt

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary enzymatic disorder of red blood cells in humans due to mutations in the G6PD gene. The G6PD enzyme catalyzes the first step in the pentose phosphate pathway to protect cells against oxidative stress. Mutations in the G6PD gene will cause functional variants with various biochemical and clinical phenotypes. So far, about 160...

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PMID: 21155022
DOI: 10.1142/s021972001000518x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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