Reichold, Markus ; Zdebik, Anselm A. ; Lieberer, Evelyn ; Rapedius, Markus ; Schmidt, Katharina ; Bandulik, Sascha ; Sterner, Christina ; Tegtmeier, Ines ; Penton, David ; Baukrowitz, Thomas ; Hulton, Sally-Anne ; Witzgall, Ralph 
; Ben-Zeev, Bruria ; Howie, Alexander J. ; Kleta, Robert ; Bockenhauer, Detlef ; Warth, Richard
; Ben-Zeev, Bruria ; Howie, Alexander J. ; Kleta, Robert ; Bockenhauer, Detlef ; Warth, Richard KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function
Reichold, Markus, Zdebik, Anselm A., Lieberer, Evelyn, Rapedius, Markus, Schmidt, Katharina, Bandulik, Sascha, Sterner, Christina, Tegtmeier, Ines, Penton, David, Baukrowitz, Thomas, Hulton, Sally-Anne, Witzgall, Ralph, Ben-Zeev, Bruria, Howie, Alexander J., Kleta, Robert, Bockenhauer, Detlef and Warth, Richard
(2010)
KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function.
Proceedings of the National Academy of Sciences 107 (32), pp. 14490-14495.
Date of publication of this fulltext: 19 Dec 2024 11:33
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| Item type | Article | ||||
| Journal or Publication Title | Proceedings of the National Academy of Sciences | ||||
| Publisher: | NATL ACAD SCIENCES | ||||
|---|---|---|---|---|---|
| Place of Publication: | WASHINGTON | ||||
| Volume: | 107 | ||||
| Number of Issue or Book Chapter: | 32 | ||||
| Page Range: | pp. 14490-14495 | ||||
| Date | 2010 | ||||
| Institutions | Biology, Preclinical Medicine > Institut für Physiologie > Prof. Dr. Richard Warth Biology, Preclinical Medicine > Institut für Anatomie > Lehrstuhl für Molekulare und zelluläre Anatomie > Prof. Dr. Ralph Witzgall | ||||
| Identification Number |
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| Keywords | THICK ASCENDING LIMB; K+ CHANNEL; POTASSIUM CHANNELS; BASOLATERAL MEMBRANE; PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE; TUBULAR EPITHELIA; PH SENSITIVITY; MODULATION; ATP; KIR4.1; Bartter; Gitelman; kidney; Kir4.1; SeSAME | ||||
| Dewey Decimal Classification | 500 Science > 570 Life sciences | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 65857 |
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