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The Newcastle University research output collection, currently available on ePrints, will shortly be moving to a new open repository platform, Figshare. To prepare for the data migration we have paused adding new content to ePrints, and will resume once the new repository is launched. During this time you will continue to have access to ePrints (but no new content will appear). We will share updates here when available.

Mutations in the Collagen XII gene define a new form of extracellular matrix related myopathy

Lookup NU author(s): Dr Debbie HicksORCiD, Dr Steven Laval, Dr Anna Sarkozy, Elena Martoni, Professor Hanns Lochmuller, Emerita Professor Katherine Bushby, Professor Volker StraubORCiD

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Publication metadata

Author(s): Hicks D, Farsani GT, Laval S, Collins J, Sarkozy A, Martoni E, Shah A, Zou Y, Koch M, Bönnemann CG, Roberts M, Lochmüller H, Bushby K, Straub V

Publication type: Article

Publication status: Published

Journal: Human Molecular Genetics

Year: 2014

Volume: 23

Issue: 9

Pages: 2353-2363

Print publication date: 01/05/2014

Online publication date: 13/12/2013

Acceptance date: 10/12/2013

ISSN (print): 0964-6906

ISSN (electronic): 1460-2083

Publisher: Oxford University Press

URL: http://dx.doi.org/10.1093/hmg/ddt637

DOI: 10.1093/hmg/ddt637

PubMed id: 24334769

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Funding

Funder referenceFunder name
'Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases (NEUROMICS)
National Commissioning Group (NCST)
Newcastle University Faculty of Medical Sciences Fellowship
2012-305121European Community
305444European Union

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