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DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.
Hum Mutat. 2011 Nov;32(11):1213-24. doi: 10.1002/humu.21564. Epub 2011 Sep 15.
Hum Mutat. 2011.
PMID: 21793105
Free article.
Review.
Singular DYT6 phenotypes in association with new THAP1 frameshift mutations.
Blanchard A, Roubertie A, Simonetta-Moreau M, Ea V, Coquart C, Frederic MY, Gallouedec G, Adenis JP, Benatru I, Borg M, Burbaud P, Calvas P, Cif L, Damier P, Destee A, Faivre L, Guyant-Marechal L, Janik P, Janoura S, Kreisler A, Lusakowska A, Odent S, Potulska-Chromik A, Rudzińska M, Thobois S, Vuillaume I, Tranchant C, Tuffery-Giraud S, Coubes P, Sablonnière B, Claustres M, Collod-Béroud G.
Blanchard A, et al. Among authors: coquart c.
Mov Disord. 2011 Aug 1;26(9):1775-7. doi: 10.1002/mds.23641. Epub 2011 Apr 25.
Mov Disord. 2011.
PMID: 21520283
No abstract available.
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