Article
Biophysical characterisation of fibulin-5 proteins associated with disease.
Journal of molecular biology - 27 Aug 2010
Schneider Ralf, Jensen Sacha A, Whiteman Pat, McCullagh James S O, Redfield Christina, Handford Penny A
Abstract excerpt
FBLN5 encodes fibulin-5, an extracellular matrix calcium-binding glycoprotein that is essential for elastic fibre formation. FBLN5 mutations are associated with two distinct human diseases, age-related macular degeneration (AMD) and cutis laxa (CL), but the biochemical basis for the pathogenic ef...
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