Functional characterization of novel ABCB 6 mutations and
Functional characterization of novel ABCB 6 mutations and their clinical implications in familial pseudohyperkalemia by Immacolata Andolfo, Roberta Russo, Francesco Manna, Gianluca De Rosa, Antonella Gambale, Soha Zouwail, Nicola Detta, Catia Lo Pardo, Seth L. Alper, Carlo Brugnara, Alok K. Sharma, Lucia De Franceschi, and Achille Iolascon haematol Volume 101(8): 909 -917 July 31, 2016 © 2016 by Ferrata Storti Foundation
Clinical data of patients with familial pseudohyperkalemia. Immacolata Andolfo et al. Haematologica 2016; 101: 909 -917 © 2016 by Ferrata Storti Foundation
Three-dimensional structural model of human ABCB 6 mutations. Immacolata Andolfo et al. Haematologica 2016; 101: 909 -917 © 2016 by Ferrata Storti Foundation
Mutations found in patients with familial pseudohyperkalemia. Immacolata Andolfo et al. Haematologica 2016; 101: 909 -917 © 2016 by Ferrata Storti Foundation
Root-mean-square deviations (Å) of superposed homology-modeled structures of the indicated patient-derived mutant ABCB 6 dimers with the modeled wild-type ABCB 6 homodimer. Immacolata Andolfo et al. Haematologica 2016; 101: 909 -917 © 2016 by Ferrata Storti Foundation
Expression and localization of ABCB 6 mutants. Immacolata Andolfo et al. Haematologica 2016; 101: 909 -917 © 2016 by Ferrata Storti Foundation
ABCB 6 protein expression and potassium efflux in red blood cells of a blood donor carrying the ABCB 6 R 276 W variant. Immacolata Andolfo et al. Haematologica 2016; 101: 909 -917 © 2016 by Ferrata Storti Foundation
Analysis of potassium efflux of ABCB 6 mutants. Immacolata Andolfo et al. Haematologica 2016; 101: 909 -917 © 2016 by Ferrata Storti Foundation
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