Proks, Peter

Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes DEND syndrome. [electronic resource] - Human molecular genetics Aug 2007 - 2011-9 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

0964-6906

10.1093/hmg/ddm149 doi


ATP-Binding Cassette Transporters--genetics
Adenosine Triphosphate--metabolism
Animals
Cells, Cultured
Diabetes Mellitus--genetics
Epilepsy--genetics
Heterozygote
Humans
Ion Channel Gating
Membrane Potentials--genetics
Multidrug Resistance-Associated Proteins--genetics
Mutation
Oocytes--metabolism
Potassium Channels, Inwardly Rectifying--genetics
Rats
Receptors, Drug
Sulfonylurea Receptors
Syndrome
Xenopus laevis--metabolism