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No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia.
J Med Genet. 2001 Oct;38(10):E35. doi: 10.1136/jmg.38.10.e35.
2
The TOR1A (DYT1) gene family and its role in early onset torsion dystonia.
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Clinical presentation and progression of sporadic and familial primary torsion dystonia in Italy.
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DYT1 mutation in primary torsion dystonia in a Serbian population.
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Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations.
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The DYT1 phenotype and guidelines for diagnostic testing.
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De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia.
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Inherited and de novo mutations in sporadic cases of DYT1-dystonia.
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[Early-onset torsion dystonia linked to chromosome 9q34: DYT1].
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Phenotypic variability of the DYT1 mutation in German dystonia patients.
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引用本文的文献
1
Genetic and clinical features of primary torsion dystonia.
Neurobiol Dis. 2011 May;42(2):127-35. doi: 10.1016/j.nbd.2010.12.012. Epub 2010 Dec 17.
2
Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?
Neurogenetics. 2008 May;9(2):143-50. doi: 10.1007/s10048-008-0123-7. Epub 2008 Mar 6.
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