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Journal article

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Abstract:

The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that interacts with perlecan/collagen VI, appears to be involved in stabilizing extracellular matrix structures, and demonstrates high expression levels in tibial nerve. Vwa1-deficient mice manifest with abnormal peripheral nerve structure/function; however, VWA1 variants have not p...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1093/brain/awaa420

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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
ORCID:
0000-0001-7334-0602
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Name:
Wellcome Trust
Grant:
203141/Z/16/Z
Publisher:
Oxford University Press
Journal:
Brain More from this journal
Volume:
144
Issue:
2
Pages:
584-600
Publication date:
2021-01-18
Acceptance date:
2020-10-15
DOI:
EISSN:
1460-2156
ISSN:
0006-8950
Language:
English
Keywords:
Pubs id:
1145133
Local pid:
pubs:1145133
Deposit date:
2020-11-12

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