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collagen type XI a-2 gene


Definition: 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.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.