Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition. [electronic resource]
Producer: 20200806Description: 104577 p. digitalISSN:- 1095-953X
- Adult
- Alleles
- Dystonic Disorders -- genetics
- Female
- HEK293 Cells
- Hemiplegia -- genetics
- Humans
- Infant, Newborn
- Male
- Middle Aged
- Mutation
- Phenotype
- Protein Transport -- genetics
- Proteostasis Deficiencies -- genetics
- Sodium-Potassium-Exchanging ATPase -- genetics
- Spasms, Infantile -- genetics
- Unfolded Protein Response -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural
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