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Fig. 1 | Journal of Medical Case Reports

Fig. 1

From: Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers–Danlos syndrome with severe intestinal involvement: a case report

Fig. 1

Schematic representation of mature type III collagen fibers in: a wild type and b mutant case respectively. If there are mutations in one COL3A1 allele the dominant negative effect is a dramatic reduction in qualitative and quantitative production of COL3A1 protein. gDNA genomic DNA, mRNA messenger RNA, mut mutant

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Journal of Medical Case Reports

ISSN: 1752-1947