A matrilin-3 mutation associated with os
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Christiane Otten; Uwe Hansen; Anja Talke; Raimund Wagener; Mats Paulsson; Frank
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Article
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2010
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John Wiley and Sons
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English
β 332 KB
Mutations in matrilin-3 have been associated with common skeletal diseases like osteoarthritis as well as with the rare chondrodysplasias MED and SEMD. We have previously shown that the mutations p.R116W and p.C299S, associated with MED and SEMD, respectively, cause retention of matrilin-3 within th