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Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in human and mice

Lookup NU author(s): Dr Debbie Hicks, Professor Volker StraubORCiD


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Publication metadata

Author(s): Zou Y, Zwolanek D, Izu Y, Gandhy S, Schreiber G, Brockmann K, Devoto M, Tian Z, Hu Y, Veit G, Meier M, Stetefeld J, Hicks D, Straub V, Voermans NC, Birk DE, Barton ER, Koch M, Bönnemann CG

Publication type: Article

Publication status: Published

Journal: Human Molecular Genetics

Year: 2014

Volume: 23

Issue: 9

Pages: 2339-2352

Print publication date: 01/05/2014

Online publication date: 11/12/2013

Acceptance date: 09/12/2013

ISSN (print): 0964-6906

ISSN (electronic): 1460-2083

Publisher: Oxford University Press


DOI: 10.1093/hmg/ddt627

PubMed id: 24334604


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Funder referenceFunder name
Canada Research Chair Program
Koln Fortune Programme of the Medical Faculty
NINDS/NIH intramural research funds
Heart and Stroke Foundation Canada
U54 AR052646Paul Wellstone Muscular Dystrophy Cooperative Research Center
SFB 829Deutsche Forschungsgemeinschaft