id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_k4xtsujbu5ef7d7o7zmcvm7tj4	Arnaud Blanchard	DYT6 dystonia: Review of the literature and creation of the UMD locus-specific database (LSDB) for mutations in the THAP1 gene	2011.0	13	.pdf	application/pdf	16792	7007	95	DYT6 dystonia: Review of the literature and creation of the UMD locusspecific database (LSDB) for mutations in the THAP1 gene THAP1 gene to colligate all reported patients with a specific THAP1 mutation and the associated clinical signs in mutations, we created a Locus-Specific Database (UMDTHAP1 LSDB) available at http://www.umd.be/THAP1/. THAP1 mutations cause DYT6 dystonia, an autosomal dominant primary form Fifty-three different mutations in the THAP1 gene have been reported so far in 56 families (Table 1). information on this gene and on the patients with THAP1 mutations The enlargement of the group of patients with THAP1 mutations (108 up to now without the asymptomatic carrier) has provided new data for delineating the phenotype of DYT6 dystonia, Five mutations are predicted to impair THAP1 DNA-binding activity: c.77C>G [Houlden et al., 2010]; Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening Mutations in the THAP1 gene are responsible for DYT6 primary	./cache/work_k4xtsujbu5ef7d7o7zmcvm7tj4.pdf	./txt/work_k4xtsujbu5ef7d7o7zmcvm7tj4.txt