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Medical Term:

collagen type XI a-2 gene


a mutation of the gene is responsible for Stickler 2 syndrome and DFNA13; located at 6p21.3; gene encodes proteins for fibrillar collagens arrayed in quarter-staggered fashion and extracellular matrix components.

© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.