Article
Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme.
Human mutation - 1 Dec 2008
Kutz Wendy E, Wang Lauren W, Dagoneau Nathalie, Odrcic Kazimir J, Cormier-Daire Valerie, Traboulsi Elias I, Apte Suneel S
Abstract excerpt
We report the identification and functional analysis of the first missense ADAMTS10 mutation (c.73G>A; p.Ala25Thr) causing recessive Weill-Marchesani syndrome (WMS). The Ala25 residue affected by the missense mutation is at the -1 position relative to the ADAMTS10 signal peptidase cleavage site....
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