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

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  2. Dr Stuart Tompson
  3. Professor Michael Briggs
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
JournalAmerican Journal of Human Genetics
Year2009
Volume84
Issue1
Pages72-79
ISSN (print)0002-9297
ISSN (electronic)1537-6605
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PublisherCell Press
URLhttp://dx.doi.org/10.1016/j.ajhg.2008.12.001
DOI10.1016/j.ajhg.2008.12.001
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