Article
'Gardos Channelopathy': a variant of hereditary Stomatocytosis with complex molecular regulation.
Scientific reports - 11 May 2017
Fermo Elisa, Bogdanova Anna, Petkova-Kirova Polina, Zaninoni Anna, Marcello Anna Paola, Makhro Asya, Hänggi Pascal, Hertz Laura, Danielczok Jens, Vercellati Cristina, Mirra Nadia, Zanella Alberto, Cortelezzi Agostino, Barcellini Wilma, Kaestner Lars, Bianchi Paola
Abstract excerpt
The Gardos channel is a Ca2+ sensitive, K+ selective channel present in several tissues including RBCs, where it is involved in cell volume regulation. Recently, mutations at two different aminoacid residues in KCNN4 have been reported in patients with hereditary xerocytosis. We identified by whole exome sequencing a new family with two members affected by chronic hemolytic anemia carrying mutation R352H in the...
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