Missense mutations in the ABCB6 transporter cause dominant familialpseudohyperkalemia-Reference-Cited by-同舟云学术

Missense mutations in the ABCB6 transporter cause dominant familialpseudohyperkalemia

Published:2012-11-24 Issue:1 Volume:88 Page:66-72
ISSN:0361-8609
Container-title:American Journal of Hematology
language:en
Short-container-title:Am. J. Hematol.

Author:

Andolfo Immacolata,Alper Seth L.,Delaunay Jean,Auriemma Carla,Russo Roberta,Asci Roberta,Esposito Maria Rosaria,Sharma Alok K.,Shmukler Boris E.,Brugnara Carlo,De Franceschi Lucia,Iolascon Achille

Publisher

Wiley

Subject

Hematology

Reference49 articles.

1. Familial pseudohyperkalemia. A new syndrome;Stewart;Lancet,1979

2. Altered erythrocyte cation permeability in familial pseudohyperkalemia;Dagher;Clin Sci (Lond),1989

3. [Pseudo-hyperkalemia. Apropos of a familial case];Vantyghem;Ann Endocrinol (Paris),1991

4. Familial pseudohyperkalemia Chiswick: A novel congenital thermotropic variant of K and Na transport across the human red cell membrane;Haines;Br J Haematol,2001

5. A second locus mapping to 2q35-36 for familial pseudohyperkalemia;Carella;Eur J Hum Genet,2004

Cited by 70 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Discrepant Potassium Levels in a Young Female: A Case Report;The Journal of Applied Laboratory Medicine;2024-07-30

2. Hyperkalemia presentation at a clinic during the cold season;CEN Case Reports;2024-06-19

3. Cryo-EM structure of cadmium-bound human ABCB6;Communications Biology;2024-05-31

4. Identification of the molecular etiology in rare congenital hemolytic anemias using next‐generation sequencing with exome‐based copy number variant analysis;European Journal of Haematology;2024-03-31

5. Next generation sequencing (NGS) interest in deciphering erythrocyte molecular defects' association in red cell disorders: Clinical and erythrocyte phenotypes of patients with mutations inheritance in PIEZO1, Spectrin ß1, RhAG and SLC4A1;Blood Cells, Molecules, and Diseases;2023-11