Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease

Machado-Joseph disease (MJD/SCA3) is the most common form of dominantly inherited ataxia worldwide. The disorder is caused by an expanded CAG repeat in the ATXN3 gene. Past studies have revealed that the length of the expansion partly explains the disease age at onset (AO) variability of MJD, which...

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Detalles Bibliográficos
Autores principales: Akçimen, Fulya, Martins, Sandra, Liao, Calwing, Bourassa, Cynthia V., Catoire, Hélène, Nicholson, Garth A., Riess, Olaf, Raposo, Mafalda, França, Marcondes C., Vasconcelos, João, Lima, Manuela, Lopes-Cendes, Iscia, Saraiva-Pereira, Maria Luiza, Jardim, Laura B., Sequeiros, Jorge, Dion, Patrick A., Rouleau, Guy A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals 2020
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7138549/
https://www.ncbi.nlm.nih.gov/pubmed/32205469
http://dx.doi.org/10.18632/aging.102825

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