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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Stevanin, Giovanni, Cassa, Eloy, Cancel, Géraldine, Abbas, Nacer, Dürr, Alexandra, Jardim, Edymar, Agid, Yves, Sousa, Patricia S, Brice, Alexis
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1995
Gaiak:
Brief Papers
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051713/
https://ncbi.nlm.nih.gov/pubmed/8558567
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