Article

Mosaic deletions in X-linked dystonia-parkinsonism influence repeat stability and disease onset

2022-01-13

Abstract excerpt

<h4>Background</h4> While multiple genetic causes of movement disorders have been identified in the past decade, modifying factors of disease expression are still largely unknown for most conditions. X-linked dystonia-parkinsonism (XDP) is an inherited neurodegenerative disease caused by a SINE-VNTR-Alu (SVA)-type retrotransposon insertion that contains a hexanucleotide repeat within an intron of the TAF1 gene. To...

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Literature Corpus work: 145e8287-4bee-5420-9c92-1c9438be9192
DOI: 10.1101/2022.01.12.22269181

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