C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome

Heterozygous missense or in-frame insertion/deletion mutations in complement 1 subunits C1r and C1s cause periodontal Ehlers-Danlos Syndrome (pEDS), a specific EDS subtype characterized by early severe periodontal destruction and connective tissue abnormalities like easy bruising, pretibial haemosid...

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Autors principals:	Rebekka Gröbner, Ines Kapferer-Seebacher, Albert Amberger, Rita Redolfi, Fabien Dalonneau, Erik Björck, Di Milnes, Isabelle Bally, Veronique Rossi, Nicole Thielens, Heribert Stoiber, Christine Gaboriaud, Johannes Zschocke
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2019-11-01
Col·lecció:	Frontiers in Immunology
Matèries:	complement system connective tissue periodontitis C1r/s Ehlers-Danlos syndrome
Accés en línia:	https://www.frontiersin.org/article/10.3389/fimmu.2019.02537/full
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