C1q deficiency in an Inuit family identification of a new class of C1q disease-causing mutations

C1q deficiency in an Inuit family : identification of a new class of C1q disease-causing mutations

C1q deficiency is a rare condition associated with a systemic lupus erythematosus (SLE)-like syndrome and recurrent infections. Here we present the molecular basis behind C1q deficiency in three sisters of Inuit origin. Initial examination for complement deficiency showed no function of the classica...

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Publié dans:Clinical immunology (Orlando, Fla.). - 1999. - 124(2007), 1 vom: 15. Juli, Seite 33-40
Auteur principal: Marquart, Hanne Vibeke (Auteur)
Autres auteurs: Schejbel, Lone, Sjoholm, Anders, Martensson, Ulla, Nielsen, Susan, Koch, Anders, Svejgaard, Arne, Garred, Peter
Format: Article
Langue:English
Publié: 2007
Accès à la collection:Clinical immunology (Orlando, Fla.)
Sujets:Journal Article Complement C1q 80295-33-6 Arginine 94ZLA3W45F Glycine TE7660XO1C