Article

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

2019-11-08

Abstract excerpt

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 is confirmed in this study. Using a total of 786 MJD patients from five different geographical origins, a genome-wid...

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Literature Corpus work: ca64fde3-bb8f-58f7-afeb-04218d7ffbad
DOI: 10.1101/834754

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