Correlation between CAG Repeat Length and Clinical Features in Machado-Joseph Disease

Machado-Joseph disease (MJD) is associated with the expansion of a CAG trinucleotide repeat in a novel gene on 14q32.1. We confirmed the presence of this expansion in 156 MJD patients from 33 families of different geographic origins: 15 Portuguese Azorean, 2 Brazilian, and 16 North American of Portu...

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Autors principals: Maciel, Patrícia, Gaspar, Claudia, DeStefano, Anita L., Silveira, Isabel, Coutinho, Paula, Radvany, João, Dawson, David M., Sudarsky, Lewis, Guimarães, João, Loureiro, Jose E. L., Nezarati, Marjan M., Corwin, Lee I., Lopes-Cendes, Iscia, Rooke, Karen, Rosenberg, Roger, MacLeod, Patrick, Farrer, Lindsay A., Sequeiros, Jorge, Rouleau, Guy A.
Format: Artigo
Idioma:Inglês
Publicat: 1995
Matèries:
Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801255/
https://ncbi.nlm.nih.gov/pubmed/7611296
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