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Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome

Vascular Ehlers-Danlos syndrome (vEDS) is a dominantly inherited connective tissue disorder caused by mutations in the COL3A1 gene that encodes type III collagen (COLLIII), which is the major expressed collagen in blood vessels and hollow organs. The majority of disease-causing variants in COL3A1 ar...

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Vydáno v:PLoS One
Hlavní autoři: Chiarelli, Nicola, Carini, Giulia, Zoppi, Nicoletta, Ritelli, Marco, Colombi, Marina
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2018
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5773204/
https://ncbi.nlm.nih.gov/pubmed/29346445
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0191220
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