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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418358/
https://www.ncbi.nlm.nih.gov/pubmed/30637984
http://dx.doi.org/10.1002/mgg3.564

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418358/
https://www.ncbi.nlm.nih.gov/pubmed/30637984
http://dx.doi.org/10.1002/mgg3.564

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