|
|
Volumn 12, Issue 1, 2011, Pages 87-89
|
|
Screening of the THAP1 gene in patients with early-onset dystonia: Myoclonic jerks are part of the dystonia 6 phenotype
a
|
|
Author keywords
[No Author keywords available]
|
|
Indexed keywords
ARGININE;
LEUCINE;
SERINE;
ADOLESCENT;
ADULT;
AGED;
DYSTONIA;
EUROPE;
EXON;
FEMALE;
FRANCE;
GENE SEQUENCE;
GENETIC SCREENING;
HUMAN;
LETTER;
MAJOR CLINICAL STUDY;
MALE;
MENTAL DEFICIENCY;
MISSENSE MUTATION;
NORTH AFRICA;
PHENOTYPE;
PRIORITY JOURNAL;
TENDON REFLEX;
ADOLESCENT;
ADULT;
AGED;
AMINO ACID SUBSTITUTION;
APOPTOSIS REGULATORY PROTEINS;
CODON, NONSENSE;
DNA-BINDING PROTEINS;
DYSTONIA MUSCULORUM DEFORMANS;
FEMALE;
FRAMESHIFT MUTATION;
HUMANS;
MALE;
MIDDLE AGED;
MUTATION;
MUTATION, MISSENSE;
MYOCLONUS;
NUCLEAR PROTEINS;
PHENOTYPE;
SEQUENCE DELETION;
|
|
EID: 79951554515
PISSN: 13646745
EISSN: None
Source Type: Journal
DOI: 10.1007/s10048-010-0264-3 Document Type: Letter |
|
Times cited : (31)
|
|
References (6)
|
