Associated Papers
Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants.
Lee GY et al.
Kidney International Reports, 2025
41141493 (PubMed )
Supplement: mmc1.pdf
Case Report: Familial Pseudohyperkalemia Due to Red Blood Cell Membrane Leak in a Chinese Patient.
Xiong W et al.
Frontiers in Medicine, 2022
Familial pseudohyperkalemia induces significantly higher levels of extracellular potassium in early storage of red cell concentrates without affecting other standard measures of quality: A case control and allele frequency study.
Meli A et al.
Transfusion, 2021
Hereditary stomatocytosis: An underdiagnosed condition.
Andolfo I et al.
American Journal of Hematology, 2018
The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.
Flatt JF et al.
Frontiers in Physiology, 2018
ABCB6, an ABC Transporter Impacting Drug Response and Disease.
Boswell-Casteel RC et al.
The Aaps Journal, 2017
Advances in understanding the pathogenesis of the red cell volume disorders.
Badens C et al.
British Journal of Haematology, 2016
Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia.
Andolfo I et al.
Haematologica, 2016
Familial pseudohyperkalemia in blood donors: a novel mutation with implications for transfusion practice.
Bawazir WM et al.
Transfusion, 2014
Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria.
Lu C et al.
Journal of Dermatological Science, 2014
Screening the expression of ABCB6 in erythrocytes reveals an unexpectedly high frequency of Lan mutations in healthy individuals.
Koszarska M et al.
Plos One, 2014
Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia.
Andolfo I et al.
American Journal of Hematology, 2013
Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.
Cui YX et al.
Plos One, 2013
Select a paper to view details