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

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

doi:10.1093/hmg/ddt627

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

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

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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

URL: http://dx.doi.org/10.1093/hmg/ddt627

DOI: 10.1093/hmg/ddt627

PubMed id: 24334604

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

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