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The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.

Published version
Peer-reviewed

Repository URI

https://www.repository.cam.ac.uk/handle/1810/290351

Repository DOI

https://doi.org/10.17863/CAM.37581
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Published version (535.69 KB)

Type

Article

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Authors

Bansagi, Boglarka 
Griffin, Helen 
Ramesh, Venkateswaran 
Duff, Jennifer 
Pyle, Angela 
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Description

Keywords

Female, Humans, Male, Microtubule-Associated Proteins, Muscular Atrophy, Spinal

Journal Title

Brain

Conference Name

Journal ISSN

0006-8950
1460-2156

Volume Title

138

Publisher

Oxford University Press (OUP)

Publisher DOI

https://doi.org/10.1093/brain/awv159

Rights

Attribution 4.0 International Repository logo
Sponsorship
Wellcome Trust (101876/Z/13/Z)

Collections

Cambridge University Research Outputs