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Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3

Lookup NU author(s): Professor Michael Briggs

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Author(s): Cotterill SL, Jackson GC, Leighton MR, Wagener R, Makitie O, Cole WG, Briggs MD

Publication type: Article

Publication status: Published

Journal: Human Mutation

Year: 2005

Volume: 26

Issue: 6

Pages: 557-565

ISSN (electronic): 1098-1004

Publisher: John Wiley & Sons, Inc.

URL: http://dx.doi.org/10.1002/humu.20263

DOI: 10.1002/humu.20263

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