Article
Expression of the collagen VI α5 and α6 chains in normal human skin and in skin of patients with collagen VI-related myopathies.
The Journal of investigative dermatology - 1 Jan 2011
Sabatelli Patrizia, Gara Sudheer K, Grumati Paolo, Urciuolo Anna, Gualandi Francesca, Curci Rosa, Squarzoni Stefano, Zamparelli Alessandra, Martoni Elena, Merlini Luciano, Paulsson Mats, Bonaldo Paolo, Wagener Raimund
Abstract excerpt
Collagen VI is an extracellular matrix protein with critical roles in maintaining muscle and skin integrity and function. Skin abnormalities, including predisposition to keratosis pilaris and abnormal scarring, were described in Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) patients carrying mutations in COL6A1, COL6A2, and COL6A3 genes, whereas COL6A5, previously designated as COL29A1,...
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