Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION.
Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION. — المؤلف: Leija-Salazar, Melissa — Molecular genetics & genomic medicine 20190508
- المؤلف
- Leija-Salazar, Melissa
- النشر
- Molecular genetics & genomic medicine 20190508
- الوصف
- e564 p.
- الموضوعات
- Gaucher Disease؛ Genetic Testing؛ Glucosylceramidase؛ Humans؛ Mutation, Missense؛ Reagent Kits, Diagnostic؛ Reproducibility of Results؛ Sensitivity and Specificity