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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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Chiarelli, Nicola, Carini, Giulia, Zoppi, Nicoletta, Ritelli, Marco, Colombi, Marina
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2018
Assuntos:
Research Article
Acesso em linha: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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