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COL3A1 Mutations Linked to Altered Structural Proteins in Vascular EDS, Study Finds

Mutations in the gene COL3A1, responsible for the development of vascular Ehlers-Danlos syndrome (vEDS), are associated with alterations in several structural proteins, according to researchers. The study, “Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome,” was…