1.
Brain Res Mol Brain Res
; 101(1-2): 132-5, 2002 May 30.
Artículo
en Inglés
| MEDLINE
| ID: mdl-12007841
RESUMEN
Deletions within the TOR1A gene cause early-onset (DYT1) torsion dystonia. We have cloned and sequenced the rat cDNA homologue of TOR1A and found a 91% identity with the human sequence. Northern blot analysis detects a single transcript of approximately 1.5 kb. In situ hybridization reveals a widespread distribution of torsinA mRNA within brain. No mutations were identified in the coding region of the gene in the genetically dystonic (dt) rat.