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

Authors

M Leija‐Salazar
Fritz J. Sedlazeck, Baylor College of Medicine
Marco Toffoli, University College London
Stephen Mullin, Peninsula Medical School
Katya Mokretar, University College London
Maria Athanasopoulou, University College London
Aimee Donald, Royal Manchester Children's Hospital
Reena Sharma, Northern Care Alliance NHS Group
Derralynn Hughes, The Royal Free Hospital
Anthony H.V. Schapira, University College London
Christos Proukakis, University College London

ORCID

• Stephen Mullin: 0000-0002-1936-394X

DOI Link

10.1002/mgg3.564

Publication Date

2019-01-01

Publication Title

Molecular Genetics and Genomic Medicine

Volume

7

Issue

3

ISSN

2324-9269

Acceptance Date

2018-12-13

Embargo Period

2019-11-23

First Page

564

Last Page

564

Recommended Citation

Leija‐Salazar, M., Sedlazeck, F., Toffoli, M., Mullin, S., Mokretar, K., Athanasopoulou, M., Donald, A., Sharma, R., Hughes, D., Schapira, A., & Proukakis, C. (2019) 'Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION', Molecular Genetics and Genomic Medicine, 7(3), pp. 564-564. Available at: 10.1002/mgg3.564