Article
Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries.
Journal of medical genetics - 1 Sept 2003
Neumann H P H, Salzmann M, Bohnert-Iwan B, Mannuelian T, Skerka C, Lenk D, Bender B U, Cybulla M, Riegler P, Königsrainer A, Neyer U, Bock A, Widmer U, Male D A, Franke G, Zipfel P F
Abstract excerpt
BACKGROUND: The aetiology of atypical haemolytic uraemic syndrome (aHUS) is, in contrast to classical, Shiga-like toxin induced HUS in children, largely unknown. Deficiency of human complement factor H and familial occurrence led to identification of the factor H gene (FH1) as the susceptibility gene, but the frequency and relevance of FH1 mutations are unknown. METHODS: We established a German registry for aHUS...
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