Evaluation of the detection ofGBAmissense mutations and other variants using the Oxford Nanopore MinION-Reference-Cited by-同舟云学术

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

Published:2019-01-13 Issue:3 Volume:7 Page:e564
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Leija‐Salazar Melissa¹,Sedlazeck Fritz J.²,Toffoli Marco¹,Mullin Stephen¹³,Mokretar Katya¹,Athanasopoulou Maria⁴,Donald Aimee⁵,Sharma Reena⁶,Hughes Derralynn⁷,Schapira Anthony H.V.¹,Proukakis Christos¹^ORCID

Affiliation:

1. Department of Clinical and Movement Neurosciences, Royal Free Campus, Institute of Neurology University College London London UK

2. Human Genome Sequencing Center Baylor College of Medicine Houston Texas

3. Institute of Translational and Stratified MedicinePlymouth University Peninsula School of Medicine Plymouth UK

4. Department of Molecular Neuroscience, Institute of Neurology University College London London UK

5. Department of Paediatrics Royal Manchester Children’s Hospital Manchester UK

6. The Mark Holland Metabolic Unit, Salford Royal Foundation NHS Trust Salford UK

7. Institute of Immunity and Transplantation Lysosomal Storage Disorders Unit, Royal Free Hospital London UK

Funder

Consejo Nacional de Ciencia y Tecnología

Medical Research Council

Michael J. Fox Foundation for Parkinson's Research

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.564

Reference52 articles.

1. GBA mutations in Parkinson disease: earlier death but similar neuropathological features

2. Glucocerebrosidase activity in Parkinson’s disease with and without GBA mutations. Brain: A;Alcalay R. N. N.;Journal of Neurology,2015

3. Evolution of Prodromal Clinical Markers of Parkinson Disease in aGBAMutation–Positive Cohort

4. The GBA variant E326K is associated with Parkinson's disease and explains a genome-wide association signal

5. Polymorphisms in the human glucocerebrosidase gene

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