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Article

Cation-leak stomatocytosis in standard schnauzers does not cosegregate with coding mutations in the RhAG, SLC4A1, or GLUT1 genes associated with human disease.

Blood cells, molecules & diseases - 15 Apr 2012

Shmukler Boris E, Rivera Alicia, Vandorpe David H, Alves Jessica, Bonfanti Ugo, Paltrinieri Saverio, Alper Seth L

Abstract excerpt

Autosomal dominant overhydrated cation-leak stomatocytosis in humans has been associated with missense mutations in the erythroid membrane transport genes AE1, RhAG, and GLUT1. Syndromic stomatocytosis has been reported in three dog breeds, but stomatocytosis in Standard Schnauzers is usually asymptomatic, and is accompanied by minimal if any anemia. We have extended the evaluation of a cohort of schnauzers. We...

Topics

Anemia, Hemolytic, Congenital
Animals
Anion Exchange Protein 1, Erythrocyte
Biological Transport
Cations
Dogs
Erythrocyte Indices
Erythrocytes
Female
Glucose Transporter Type 1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Ions

Male

Membrane Glycoproteins

Mutation

Open Reading Frames

Pedigree

Polymorphism, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 22406315
DOI: 10.1016/j.bcmd.2012.02.003
PMCID: PMC3596261

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