Article

Nanopore sequencing of the glucocerebrosidase ( <i>GBA</i> ) gene in a New Zealand Parkinson’s disease cohort

2019-08-28

Abstract excerpt

<h4>Introduction</h4> Bi-allelic mutations in the gene for glucocerebrosidase ( GBA ) cause Gaucher disease, an autosomal recessive lysosomal storage disorder. Gaucher disease causing GBA mutations in the heterozygous state are also high risk factors for Parkinson’s disease (PD). GBA analysis is challenging due to a related pseudogene and structural variations (SVs) that can occur at this locus. We have applie...

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Literature Corpus work: 24256ac9-0ba9-5060-a5f0-da43d555d03a
DOI: 10.1101/748335

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