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Article

The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein.

Blood - 5 Feb 2009

Bruce Lesley J, Guizouarn Hélène, Burton Nicholas M, Gabillat Nicole, Poole Joyce, Flatt Joanna F, Brady R Leo, Borgese Franck, Delaunay Jean, Stewart Gordon W

Abstract excerpt

Overhydrated hereditary stomatocytosis (OHSt) is a rare dominantly inherited hemolytic anemia characterized by a profuse membrane leak to monovalent cations. Here, we show that OHSt red cell membranes contain slightly reduced amounts of Rh-associated glycoprotein (RhAG), a putative gas channel protein. DNA analysis revealed that the OHSt patients have 1 of 2 heterozygous mutations (t182g, t194c) in RHAG that lead...

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Source

Identifiers

PMID: 18931342
DOI: 10.1182/blood-2008-07-171140

Genes

RHAG

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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.

Related research

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The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein.PMID 18931342Read ↗

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