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

M Leija‐Salazar; Fritz J. Sedlazeck; Marco Toffoli; Stephen Mullin; Katya Mokretar; Maria Athanasopoulou; Aimee Donald; Reena Sharma; Derralynn Hughes; Anthony H.V. Schapira; Christos Proukakis

doi:10.1002/mgg3.564

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

M Leija‐Salazar, Fritz J. Sedlazeck, Marco Toffoli, Stephen Mullin, Katya Mokretar, Maria Athanasopoulou, Aimee Donald, Reena Sharma, Derralynn Hughes, Anthony H.V. Schapira, Christos Proukakis^*

^*Corresponding author for this work

Peninsula Medical School

Research output: Contribution to journal › Article › peer-review

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Original language	English
Pages (from-to)	e564-e564
Number of pages	0
Journal	Molecular Genetics and Genomic Medicine
Volume	7
Issue number	3
Early online date	13 Jan 2019
DOIs	https://doi.org/10.1002/mgg3.564
Publication status	Published - Mar 2019

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10.1002/mgg3.564

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

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Leija‐Salazar, M., Sedlazeck, F. J., Toffoli, M., Mullin, S., Mokretar, K., Athanasopoulou, M., Donald, A., Sharma, R., Hughes, D., Schapira, A. H. V., & 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), e564-e564. https://doi.org/10.1002/mgg3.564

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title = "Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION",

author = "M Leija‐Salazar and Sedlazeck, \{Fritz J.\} and Marco Toffoli and Stephen Mullin and Katya Mokretar and Maria Athanasopoulou and Aimee Donald and Reena Sharma and Derralynn Hughes and Schapira, \{Anthony H.V.\} and Christos Proukakis",

year = "2019",

month = mar,

doi = "10.1002/mgg3.564",

language = "English",

volume = "7",

pages = "e564--e564",

journal = "Molecular Genetics and Genomic Medicine",

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Leija‐Salazar, M, Sedlazeck, FJ, Toffoli, M, Mullin, S, Mokretar, K, Athanasopoulou, M, Donald, A, Sharma, R, Hughes, D, Schapira, AHV & Proukakis, C 2019, 'Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION', Molecular Genetics and Genomic Medicine, vol. 7, no. 3, pp. e564-e564. https://doi.org/10.1002/mgg3.564

TY - JOUR

T1 - Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION

AU - Leija‐Salazar, M

AU - Sedlazeck, Fritz J.

AU - Toffoli, Marco

AU - Mullin, Stephen

AU - Mokretar, Katya

AU - Athanasopoulou, Maria

AU - Donald, Aimee

AU - Sharma, Reena

AU - Hughes, Derralynn

AU - Schapira, Anthony H.V.

AU - Proukakis, Christos

PY - 2019/3

Y1 - 2019/3

UR - https://pearl.plymouth.ac.uk/pms-research/896/

U2 - 10.1002/mgg3.564

DO - 10.1002/mgg3.564

M3 - Article

SN - 2324-9269

VL - 7

SP - e564-e564

JO - Molecular Genetics and Genomic Medicine

JF - Molecular Genetics and Genomic Medicine

IS - 3

ER -

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

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