Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease

Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder which has been shown to result, in Japanese families, from the expansion of a CAG repeat in the MJD1 gene on chromosome 14q. We show that the same molecular mechanism is responsible for MJD in four large Brazilian kindr...

詳細記述

保存先:
書誌詳細
主要な著者: Stevanin, Giovanni, Cassa, Eloy, Cancel, Géraldine, Abbas, Nacer, Dürr, Alexandra, Jardim, Edymar, Agid, Yves, Sousa, Patricia S, Brice, Alexis
フォーマット: Artigo
言語:Inglês
出版事項: 1995
主題:
Brief Papers
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051713/
https://ncbi.nlm.nih.gov/pubmed/8558567
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