Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype
Published in
Neurogenetics, vol. 12, no. 1, p. 87-89Publication date
2011Keywords
- Adolescent
- Adult
- Aged
- Amino Acid Substitution
- Apoptosis Regulatory Proteins/genetics
- Codon, Nonsense
- DNA-Binding Proteins/genetics
- Dystonia Musculorum Deformans/genetics/physiopathology
- Female
- Frameshift Mutation
- Humans
- Male
- Middle Aged
- Mutation
- Mutation, Missense
- Myoclonus/genetics/physiopathology
- Nuclear Proteins/genetics
- Phenotype
- Sequence Deletion
UNIGE affiliation entities
UNIGE research groups
Citation (ISO format)
CLOT, Fabienne et al. Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype. In: Neurogenetics, 2011, vol. 12, n° 1, p. 87–89. doi: 10.1007/s10048-010-0264-3
Identifiers
- PID : unige:32871
- DOI : 10.1007/s10048-010-0264-3
- PMID : 21110056
