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Article

A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis.

Haematologica - 1 Aug 2009

Iolascon Achille, De Falco Luigia, Borgese Franck, Esposito Maria Rosaria, Avvisati Rosa Anna, Izzo Pietro, Piscopo Carmelo, Guizouarn Helene, Biondani Andrea, Pantaleo Antonella, De Franceschi Lucia

Abstract excerpt

BACKGROUND: Stomatocytoses are a group of inherited autosomal dominant hemolytic anemias and include overhydrated hereditary stomatocytosis, dehydrated hereditary stomatocytosis, hereditary cryohydrocytosis and familial pseudohyperkalemia. DESIGN AND METHODS: We report a novel variant of hereditary stomatocytosis due to a de novo band 3 mutation (p. G796R-band3 CEINGE) associated with a dyserythropoietic...

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Identifiers

PMID: 19644137
DOI: 10.3324/haematol.2008.002873
PMCID: PMC2719027

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Source receipt: pubmed, retrieved 7 Sept 2026.

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