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Article

Both mutations in G6PD A- are necessary to produce the G6PD deficient phenotype.

Human molecular genetics - 1 Jun 1992

Town M, Bautista J M, Mason P J, Luzzatto L

Abstract excerpt

The high prevalence of glucose 6-phosphate dehydrogenase (G6PD) deficiency in African populations is due almost entirely to the enzyme variant A-, which differs from the wild-type G6PD B by two amino acid replacements, 68 Val-->Met and 126 Asn-->Asp. The non-deficient polymorphic variant G6PD A contains only the mutation 126 Asn-->Asp. The frequencies of the G6PD A and of the G6PD A- genes in parts of Africa are...

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Identifiers

PMID: 1303173
DOI: 10.1093/hmg/1.3.171

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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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Both mutations in G6PD A- are necessary to produce the G6PD deficient phenotype.PMID 1303173Read ↗

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