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Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers–Danlos syndrome

AIMS: The vascular type of Ehlers–Danlos syndrome (EDS IV) is an autosomal-dominant disorder characterized by thin translucent skin and extensive bruising. Patients with EDS IV have reduced life expectancy (median 45–50 years) due to spontaneous rupture of arteries (particularly large arteries) or b...

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Detalles Bibliográficos
Autores principales: Smith, Lee B., Hadoke, Patrick W.F., Dyer, Emma, Denvir, Martin A., Brownstein, David, Miller, Eileen, Nelson, Nancy, Wells, Sara, Cheeseman, Michael, Greenfield, Andy
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3058731/
https://www.ncbi.nlm.nih.gov/pubmed/21071432
http://dx.doi.org/10.1093/cvr/cvq356