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Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION.

著者 Leija-Salazar M , Sedlazeck FJ , Toffoli M , Mullin S , Mokretar K , Athanasopoulou M , Donald A , Sharma R , Hughes D , Schapira AHV , Proukakis C
Mol Genet Genomic Med.2019 Jan 13 ; ():e564.
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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 using long reads.
PMID: 30637984 [PubMed - as supplied by publisher]
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