A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of the collagen α3(VI) chain interferes with protein folding
Open Access
- 1 April 2000
- journal article
- research article
- Published by Wiley in The FASEB Journal
- Vol. 14 (5) , 761-768
- https://doi.org/10.1096/fasebj.14.5.761
Abstract
A single G1679E mutation in the ami-no-terminal globular domain N2 of the «3 chain of type VI collagen was found in a large family affected with Bethlem myopathy. Recombinant production of N2 (~200 r...Keywords
Funding Information
- Deutsche Forschungsgemeinschaft (AR38912, NS26630)
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