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...
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 |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2019-12-01
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Series: | Frontiers in Immunology |
Subjects: | |
Online Access: | https://www.frontiersin.org/article/10.3389/fimmu.2019.02962/full |
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