PMC Links for Protein (Select 341940564) - PMC

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Items: 3

Select item 70606401.

A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Ca_v3.2 T-type channel activity

Robin N. Stringer, Bohumila Jurkovicova-Tarabova, Sun Huang, Omid Haji-Ghassemi, Romane Idoux, Anna Liashenko, Ivana A. Souza, Yuriy Rzhepetskyy, Lubica Lacinova, Filip Van Petegem, Gerald W. Zamponi, Roger Pamphlett, Norbert Weiss

Mol Brain. 2020; 13: 33. Published online 2020 Mar 6. doi: 10.1186/s13041-020-00577-6

PMCID:: PMC7060640

Article PDF–2.3M

Select item 44084472.

Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism

Ute I Scholl, Gabriel Stölting, Carol Nelson-Williams, Alfred A Vichot, Murim Choi, Erin Loring, Manju L Prasad, Gerald Goh, Tobias Carling, C Christofer Juhlin, Ivo Quack, Lars C Rump, Anne Thiel, Marc Lande, Britney G Frazier, Majid Rasoulpour, David L Bowlin, Christine B Sethna, Howard Trachtman, Christoph Fahlke, Richard P Lifton

eLife. 2015; 4: e06315. Published online 2015 Apr 24. doi: 10.7554/eLife.06315