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Keywords: Na+/K+-ATPase α3 subunit (ATP1A3)
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Journal Articles
In collection:
Rare Disease Translational Research
Fumihiko Fujii, Hikaru Kanemasa, Sayaka Okuzono, Daiki Setoyama, Ryoji Taira, Kousuke Yonemoto, Yoshitomo Motomura, Hiroki Kato, Keiji Masuda, Takahiro A. Kato, Shouichi Ohga, Yasunari Sakai
Journal:
Disease Models & Mechanisms
Dis Model Mech (2024) 17 (6): dmm050574.
Published: 2 July 2024
... JP21K07865 JP23K07334 Na + /K + -ATPase α3 subunit (ATP1A3) Alternating hemiplegia of childhood Interaction Heat stress Protein synthesis Mitochondria Induced pluripotent stem cells (iPSCs) Summary: Pathogenic variants in ATP1A3 cause alternating hemiplegia of childhood and related...
Includes: Supplementary data