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Article

Amino acid conservation and clinical severity of human glucose-6-phosphate dehydrogenase mutations.

Journal of biomedical science - 1 Jan 2000

Cheng Y S, Tang T K, Hwang M

Abstract excerpt

More than a hundred naturally occurring mutations of human glucose-6-phosphate dehydrogenase (G6PD) have been identified at the amino acid level. The abundance of distinct mutation sites and their clinical manifestations make this enzyme ideal for structure-function analysis studies. We present here a sequence and structure combined analysis by which the severity of clinical symptoms resulting from point...

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PMID: 10087441
DOI: 10.1007/BF02256441

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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