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

Tompson, Stuart W. ; Merriman, Barry ; Funari, Vincent A. ; Fresquet, Maryline ; Lachman, Ralph S. ; Rimoin, David L. ; Nelson, Stanley F. ; Briggs, Michael D. ; Cohn, Daniel H. ; Krakow, Deborah

American journal of human genetics, 2009-01, Vol.84 (1), p.72-79 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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