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Glucose-6-phosphate dehydrogenase Durham: A de novo mutation associated with chronic hemolytic anemia

Authors
Journal
The Journal of Pediatrics
0022-3476
Publisher
Elsevier
Publication Date
Volume
131
Issue
2
Identifiers
DOI: 10.1016/s0022-3476(97)70167-7
Disciplines
  • Biology
  • Chemistry
  • Medicine

Abstract

Abstract Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked enzyme defect. We report a new variant, G6PD Durham 713G , that is associated with chronic nonspherocytic hemolytic anemia. The G6PD Durham 713G variant has a unique biochemical and enzymatic profile and a novel A→G substitution mutation at nucleotide 713, changing lysine to arginine at amino acid 238. This mutation was not found in the mother of our patient, indicating that G6PD Durham 713G resulted from a de novo mutation. (J Pediatr 1997;131:284-7)

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