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

Lookup NU author(s): Dr Boglarka Bansagi, Dr Helen Griffin, Dr Vankateswara Ramesh, Dr Jennifer Duff, Dr Angela Pyle, Professor Patrick Chinnery, Professor Rita Horvath

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Publication metadata

Author(s): Bansagi B, Griffin H, Ramesh V, Duff J, Pyle A, Chinnery PF, Horvath R

Publication type: Article

Publication status: Published

Journal: Brain

Year: 2015

Volume: 138

Issue: 11

Print publication date: 01/11/2015

Online publication date: 10/06/2015

Acceptance date: 01/01/1900

Date deposited: 01/07/2015

ISSN (print): 0006-8950

ISSN (electronic): 1460-2156

Publisher: Oxford University Press

URL: http://dx.doi.org/10.1093/brain/awv159

DOI: 10.1093/brain/awv159

PubMed id: 26063656


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