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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Detaylı Bibliyografya
Yayımlandı:Aging (Albany NY)
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Impact Journals 2020
Konular:
Research Paper
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7138549/
https://ncbi.nlm.nih.gov/pubmed/32205469
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18632/aging.102825
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