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Article

Distinct phenotypic expression of two de novo missense mutations affecting the dimer interface of glucose-6-phosphate dehydrogenase.

Blood cells, molecules & diseases - 1 Jan 2000

van Wijk Richard, Huizinga Eric G, Prins Ingrid, Kors Arjenne, Rijksen Gert, Bierings Marc, van Solinge Wouter W

Abstract excerpt

Mutations encoding class I glucose-6-phosphate dehydrogenase (G6PD) variants are associated with chronic nonspherocytic hemolytic anemia (CNSHA), the most severe phenotypic expression of G6PD deficiency. These mutations frequently affect the G6PD dimer interface that is essential for enzymatic activity. We detected two de novo missense mutations concerning residues located close together in the dimer interface in...

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PMID: 14757424
DOI: 10.1016/j.bcmd.2003.10.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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