Clinical features and morphology of collagen fibrils in patients with vascular Ehlers–Danlos based on electron microscopy

Background: Vascular-type Ehlers–Danlos syndrome (vEDS) is caused by collagen III deficit resulting from heterogeneous mutations in COL3A1, which occasionally causes sudden death due to arterial/visceral rupture. However, it is difficult to conduct basic research on the pathophysiology of vEDS. More...

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Detalles Bibliográficos
Autores principales: Ishikawa, Satoko, Hayashi, Shujiro, Sairenchi, Toshimi, Miyamoto, Manabu, Yoshihara, Shigemi, Kobashi, Gen, Yamaguchi, Tomomi, Kosho, Tomoki, Igawa, Ken
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10466410/
https://www.ncbi.nlm.nih.gov/pubmed/37655064
http://dx.doi.org/10.3389/fgene.2023.1238209

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