Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). [electronic resource]
Producer: 20140206Description: 3259-68 p. digitalISSN:- 1460-2083
- Aged
- Binding Sites -- genetics
- Cells, Cultured
- Chromosomes, Human, X
- Codon, Nonsense
- Exome
- Female
- Frameshift Mutation
- Gene Expression Regulation
- Gene Knockdown Techniques
- Genetic Diseases, X-Linked -- genetics
- Genetic Linkage
- Genetic Variation
- HEK293 Cells
- Humans
- Male
- X-Linked Intellectual Disability -- genetics
- Muscle Spasticity -- genetics
- Mutation, Missense
- Parkinsonian Disorders -- genetics
- Receptors, Cell Surface -- chemistry
- Sequence Analysis, RNA
- Vacuolar Proton-Translocating ATPases -- chemistry
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Publication Type: Journal Article; Research Support, American Recovery and Reinvestment Act; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
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