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

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 asympt...

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Detalhes bibliográficos
Main Authors: Shmukler, Boris E., Rivera, Alicia, Vandorpe, David H., Alves, Jessica, Bonfanti, Ugo, Paltrinieri, Saverio, Alper, Seth L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3596261/
https://ncbi.nlm.nih.gov/pubmed/22406315
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bcmd.2012.02.003
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