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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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Detalles Bibliográficos
Autores principales:	Gröbner, Rebekka, Kapferer-Seebacher, Ines, Amberger, Albert, Redolfi, Rita, Dalonneau, Fabien, Björck, Erik, Milnes, Di, Bally, Isabelle, Rossi, Veronique, Thielens, Nicole, Stoiber, Heribert, Gaboriaud, Christine, Zschocke, Johannes
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2019
Materias:	Immunology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848165/ https://www.ncbi.nlm.nih.gov/pubmed/31749804 http://dx.doi.org/10.3389/fimmu.2019.02537

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