Article

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

2017-06-14

Abstract excerpt

<h4>Summary</h4> X-linked Dystonia-Parkinsonism (XDP) is a Mendelian neurodegenerative disease endemic to the Philippines. We integrated genome and transcriptome assembly with induced pluripotent stem cell-based modeling to identify the XDP causal locus and potential pathogenic mechanism. Genome sequencing identified novel variation that was shared by all probands and three recombination events that narrowed the...

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Literature Corpus work: 819c190d-2908-543e-a9fb-dbec07ebceab
DOI: 10.1101/149872

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