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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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Autors principals: Shmukler, Boris E., Rivera, Alicia, Vandorpe, David H., Alves, Jessica, Bonfanti, Ugo, Paltrinieri, Saverio, Alper, Seth L.
Format: Artigo
Idioma:Inglês
Publicat: 2012
Matèries:
Accés en línia: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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