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Nanopore sequencing of the glucocerebrosidase (GBA) gene in a New Zealand Parkinson's disease cohort.

著者 Graham OEE , Pitcher TL , Liau Y , Miller AL , Dalrymple-Alford JC , Anderson TJ , Kennedy MA
Parkinsonism Relat Disord.2019 Nov 29 ; 70():36-41.
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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 applied and refined a recently developed nanopore DNA sequencing method to analyze GBA variants in a clinically assessed New Zealand longitudinal cohort of PD.
PMID: 31809948 [PubMed - as supplied by publisher]
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