Article

Detection of <i>GBA</i> missense mutations and other variants using the Oxford Nanopore MinION

2018-03-23

Abstract excerpt

<h4>Purpose</h4> Mutations in GBA cause Gaucher disease when biallelic, and are strong risk factors for Parkinson’s disease when heterozygous. GBA analysis is complicated by the nearby pseudogene. We aimed to design and validate a method for sequencing GBA on the Oxford Nanopore MinION. <h4>Methods</h4> We sequenced an 8.9 kb amplicon from DNA samples of 17 individuals, including patients with Parkinson’s an...

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Literature Corpus work: 8782961f-0ed5-594f-a0d2-15133424a365
DOI: 10.1101/288068

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