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Four decades in the making: Collagen III and mechanisms of vascular Ehlers Danlos Syndrome

Vascular Ehlers Danlos (vEDS) syndrome is a severe multi-systemic connective tissue disorder characterized by risk of dissection and rupture of the arteries, gastro-intestinal tract and gravid uterus. vEDS is caused by mutations in COL3A1, that encodes the alpha 1 chain of type III collagen, which i...

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Detalles Bibliográficos
Autores principales: Omar, Ramla, Malfait, Fransiska, Van Agtmael, Tom
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8609142/
https://www.ncbi.nlm.nih.gov/pubmed/34849481
http://dx.doi.org/10.1016/j.mbplus.2021.100090