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

Lookup NU author(s): Dr Debbie Hicks, 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


DOI: 10.1093/hmg/ddt637

PubMed id: 24334769


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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