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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 Briggs

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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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