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Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases
An extensive variety of THAP1 sequence variants have been associated with focal, segmental and generalized dystonia with age of onset ranging from 3 to over 60 years. In previous work, we screened 1,114 subjects with mainly adult-onset primary dystonia (Neurology 2010;74:229-238) and identified 6 mi...
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| Autori principali: | , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2012
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3358360/ https://ncbi.nlm.nih.gov/pubmed/22377579 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.parkreldis.2012.02.001 |
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