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

BACKGROUND: 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. METHODS: We sequenced GBA...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Leija‐Salazar, Melissa, Sedlazeck, Fritz J., Toffoli, Marco, Mullin, Stephen, Mokretar, Katya, Athanasopoulou, Maria, Donald, Aimee, Sharma, Reena, Hughes, Derralynn, Schapira, Anthony H.V., Proukakis, Christos
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Method
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6418358/
https://ncbi.nlm.nih.gov/pubmed/30637984
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.564
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