Functional Analysis of the Kv1.1 N255D Mutation Associated with Autosomal Dominant Hypomagnesemia

Mutations in the voltage-gated K(+) channel Kv1.1 have been linked with a mixed phenotype of episodic ataxia and/or myokymia. Recently, we presented autosomal dominant hypomagnesemia as a new phenotypic characteristic associated with a mutation in Kv1.1 (N255D) (Glaudemans, B., van der Wijst, J., Sc...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: van der Wijst, Jenny, Glaudemans, Bob, Venselaar, Hanka, Nair, Anil V., Forst, Anna-Lena, Hoenderop, Joost G. J., Bindels, René J. M.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Society for Biochemistry and Molecular Biology 2010
Pynciau:
Membrane Transport, Structure, Function, and Biogenesis
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2804162/
https://ncbi.nlm.nih.gov/pubmed/19903818
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M109.041517
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