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Article

Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.

Blood - 10 Nov 2011

Flatt Joanna F, Guizouarn Hélène, Burton Nicholas M, Borgese Franck, Tomlinson Richard J, Forsyth Robert J, Baldwin Stephen A, Levinson Bari E, Quittet Philippe, Aguilar-Martinez Patricia, Delaunay Jean, Stewart Gordon W, Bruce Lesley J

Abstract excerpt

The hereditary stomatocytoses are a series of dominantly inherited hemolytic anemias in which the permeability of the erythrocyte membrane to monovalent cations is pathologically increased. The causative mutations for some forms of hereditary stomatocytosis have been found in the transporter protein genes, RHAG and SLC4A1. Glucose transporter 1 (glut1) deficiency syndromes (glut1DSs) result from mutations in...

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Identifiers

PMID: 21791420
DOI: 10.1182/blood-2010-12-326645

Genes

RHAG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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