A variant in the HS1-BP3 gene is associated with familial essential tremor.
Shatunov
A
A
Jankovic
J
J
Elble
R
R
Sambuughin
N
N
Singleton
A
A
Hallett
M
M
Goldfarb
L
L
D019943:Amino Acid Substitution; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D004252:DNA Mutational Analysis; D020329:Essential Tremor / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D015810:Linkage Disequilibrium / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*
C503777:HS1BP3 protein, human; D009419:Nerve Tissue Proteins