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

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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Bibliographic Details
Main Authors: 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: Article
Language:English
Published: Frontiers Media S.A. 2019-12-01
Series:Frontiers in Immunology
Subjects:
C1s protease
complement system
periodontal
Ehlers-Danlos
HMGB1
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2019.02962/full

Internet

https://www.frontiersin.org/article/10.3389/fimmu.2019.02962/full

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