Article
Solution structure and dynamics of a calcium binding epidermal growth factor-like domain pair from the neonatal region of human fibrillin-1.
The Journal of biological chemistry - 4 Apr 2003
Smallridge Rachel S, Whiteman Pat, Werner Jörn M, Campbell Iain D, Handford Penny A, Downing A Kristina
Abstract excerpt
Fibrillin-1 is a mosaic protein mainly composed of 43 calcium binding epidermal growth factor-like (cbEGF) domains arranged as multiple, tandem repeats. Mutations within the fibrillin-1 gene cause Marfan syndrome (MFS), a heritable disease of connective tissue. More than 60% of MFS-causing mutations identified are localized to cbEGFs, emphasizing that the native properties of these domains are critical for...
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