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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Detalles Bibliográficos
Autores principales: Bally, Isabelle, Dalonneau, Fabien, Chouquet, Anne, Gröbner, Rebekka, Amberger, Albert, Kapferer-Seebacher, Ines, Stoiber, Heribert, Zschocke, Johannes, Thielens, Nicole M., Rossi, Véronique, Gaboriaud, Christine
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/PMC6930149/
https://www.ncbi.nlm.nih.gov/pubmed/31921203
http://dx.doi.org/10.3389/fimmu.2019.02962

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