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Overall, despite the few above-mentioned reports and the suggestion for a possible association between type V collagen defects and cardiovascular fragility demonstrated in Col5a1 and Col5a2 knock-out mice [124, 125], our results suggest that the risk for severe vascular complications seems to be fairly low in humans harboring a type V collagen defect and the presence of additional, yet unknown, genetic modifiers in families with a severe vascular phenotype is reasonable

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Archived from the original on October 8, 2016

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