THAP1 Mutations and Dystonia Phenotypes: Genotype Phenotype Correlations

THAP1 mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the THAP1 gene have been associated with a range of severity and dystonia phenotypes, but, as yet, it has been difficult to identify clear genotype phenotype patterns. Here, we screened the...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Xiromerisiou, Georgia, Houlden, Henry, Scarmeas, Nikolaos, Stamelou, Maria, Kara, Eleanna, Hardy, John, Lees, Andrew J, Korlipara, Prasad, Limousin, Patricia, Paudel, Reema, Hadjigeorgiou, Georgios M, Bhatia, Kailash P
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Wiley Subscription Services, Inc., A Wiley Company 2012
Θέματα:
Research Articles
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3664430/
https://ncbi.nlm.nih.gov/pubmed/22903657
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mds.25146
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