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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.

A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan

Lookup NU author(s): Dr Stuart Tompson, Professor Michael BriggsORCiD

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Publication metadata

Author(s): Tompson S, Merriman B, Funari VA, Fresquet M, Lachman RS, Rimoin DL, Nelson SF, Briggs MD, Cohn DH, Krakow D

Publication type: Article

Publication status: Published

Journal: American Journal of Human Genetics

Year: 2009

Volume: 84

Issue: 1

Pages: 72-79

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press

URL: http://dx.doi.org/10.1016/j.ajhg.2008.12.001

DOI: 10.1016/j.ajhg.2008.12.001


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