Two Different Missense C1S Mutations, Associated to Periodontal Ehlers-Danlos Syndrome, Lead to Identical Molecular Outcomes

Ehlers-Danlos syndromes (EDS) are clinically and genetically heterogeneous disorders characterized by soft connective tissue alteration like joint hypermobility and skin hyper-extensibility. We previously identified heterozygous missense mutations in the C1R and C1S genes, coding for the complement...

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Autors principals:	Isabelle Bally, Fabien Dalonneau, Anne Chouquet, Rebekka Gröbner, Albert Amberger, Ines Kapferer-Seebacher, Heribert Stoiber, Johannes Zschocke, Nicole M. Thielens, Véronique Rossi, Christine Gaboriaud
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2019-12-01
Col·lecció:	Frontiers in Immunology
Matèries:	C1s protease complement system periodontal Ehlers-Danlos HMGB1
Accés en línia:	https://www.frontiersin.org/article/10.3389/fimmu.2019.02962/full
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