C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome

Grobner, R; Kapferer-Seebacher, I; Amberger, A; Redolfi, R; Dalonneau, F; Bjorck, E; Milnes, D; Bally, I; Rossi, V; Thielens, N; Stoiber, H; Gaboriaud, C; Zschocke, J

Zschocke, J (reprint author), Med Univ Innsbruck, Inst Human Genet, Innsbruck, Austria.

FRONTIERS IN IMMUNOLOGY, 2019; 10 ():

Abstract

Heterozygous missense or in-frame insertion/deletion mutations in complement 1 subunits C1r and C1s cause periodontal Ehlers-Danlos Syndrome (pEDS), a......

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