Title : Genotype-phenotype correlations in alternating hemiplegia of childhood.

Pub. Date : 2014 Feb 11

PMID : 24431296






1 Functional Relationships(s)
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1 RESULTS: Gene analysis revealed 33 patients with de novo heterozygous missense mutations of ATP1A3: Glu815Lys in 12 cases (36%), Asp801Asn in 10 cases (30%), and other missense mutations in 11 cases. glu815lys ATPase Na+/K+ transporting subunit alpha 3 Homo sapiens