Owner only: item control page
Schlingmann, Karl P. ; Bandulik, Sascha ; Mammen, Cherry ; Tarailo-Graovac, Maja 
; Holm, Rikke ; Baumann, Matthias ; König, Jens ; Lee, Jessica J. Y. ; Drögemöller, Britt ; Imminger, Katrin ; Beck, Bodo B. ; Altmüller, Janine ; Thiele, Holger ; Waldegger, Siegfried ; van’t Hoff, William ; Kleta, Robert ; Warth, Richard ; van Karnebeek, Clara D. M. ; Vilsen, Bente ; Bockenhauer, Detlef ; Konrad, Martin
; Holm, Rikke ; Baumann, Matthias ; König, Jens ; Lee, Jessica J. Y. ; Drögemöller, Britt ; Imminger, Katrin ; Beck, Bodo B. ; Altmüller, Janine ; Thiele, Holger ; Waldegger, Siegfried ; van’t Hoff, William ; Kleta, Robert ; Warth, Richard ; van Karnebeek, Clara D. M. ; Vilsen, Bente ; Bockenhauer, Detlef ; Konrad, Martin Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability
Schlingmann, Karl P., Bandulik, Sascha, Mammen, Cherry, Tarailo-Graovac, Maja, Holm, Rikke, Baumann, Matthias, König, Jens, Lee, Jessica J. Y., Drögemöller, Britt , Imminger, Katrin, Beck, Bodo B., Altmüller, Janine, Thiele, Holger, Waldegger, Siegfried, van’t Hoff, William, Kleta, Robert, Warth, Richard , van Karnebeek, Clara D. M., Vilsen, Bente , Bockenhauer, Detlef and Konrad, Martin
(2018)
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.
The American Journal of Human Genetics 103 (5), pp. 808-816.
Date of publication of this fulltext: 28 Jul 2021 17:00
Article
Alternative links to fulltext
Involved Institutions
Details
| Item type | Article | ||||
| Journal or Publication Title | The American Journal of Human Genetics | ||||
| Publisher: | CELL PRESS | ||||
|---|---|---|---|---|---|
| Place of Publication: | CAMBRIDGE | ||||
| Volume: | 103 | ||||
| Number of Issue or Book Chapter: | 5 | ||||
| Page Range: | pp. 808-816 | ||||
| Date | 2018 | ||||
| Institutions | Biology, Preclinical Medicine > Institut für Pflanzenwissenschaften > Lehrstuhl für Zellbiologie und Pflanzenphysiologie (Prof. Dr. Klaus Grasser) | ||||
| Identification Number |
| ||||
| Keywords | SOMATIC MUTATIONS; ALPHA-SUBUNIT; ISOFORM; NA+,K+-ATPASE; NA,K-ATPASE; SODIUM; TRPM6; HYPEREXCITABILITY; INHIBITION; TRANSPORT; | ||||
| Dewey Decimal Classification | 500 Science > 580 Botanical sciences | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 46645 |
Export bibliographical data
Owner only: item control page
Altmetric
Altmetric