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collagen type II a-1 gene


Definition: a mutation of this gene is responsible for Stickler 1 syndrome; located on 12q13.11–13.2; gene encodes proteins for fibrillar collagens arrayed in quarter-staggered fashion and extracellular matrix components.

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© Copyright 2019 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.