Title : Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.

Pub. Date : 2013

PMID : 23409136






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 All mutations were at highly conserved amino acid residues and deduced to affect ATPase activity of the corresponding ATP pump, the product of ATP1A3. Adenosine Triphosphate ATPase Na+/K+ transporting subunit alpha 3 Homo sapiens