Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene. - Concepedia

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Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene.

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2008

Year

Anna Sułek, Wioletta Krysa, Elżbieta Zdzienicka, Walentyna Szirkowiec, Dorota Hoffman‐Zacharska, Marta Rajkiewicz, E Fidziańska, Grażyna Kowalska, Jacek Zaremba

Abstract

The study on 244 patients referred with the clinical diagnosis of HD and without mutation of the IT15 gene revealed one case of SCA17 but did not disclose the presence of two other diseases with a similar clinical manifestation: DRPLA and HDL2.