Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease - Caprioli, Jessica; Castelletti, Federica; Bucchioni, Sara; Bettinaglio, Paola; Bresin, Elena; Pianetti, Gaia; Gamba, Sara; Brioschi, Simona; Daina, Erica; Remuzzi, Giuseppe; Noris, Marina (Human molecular genetics, 2003)
Keywords: Amino Acid Sequence; Base Sequence; Biological and medical sciences; Classical genetics, quantitative genetics, hybrids; Complement Factor H - genetics; DNA Mutational Analysis; Female; Fundamental and applied biological sciences. Psychology; Gene Frequency; Genetic Predisposition to Disease; Genetics of eukaryotes. Biological and molecular evolution; Hemolytic-Uremic Syndrome - genetics; HF1 gene; Human; Humans; Male; Models, Molecular; Molecular Sequence Data; Mutation; Pedigree; Polymorphism, Genetic; Polymorphism, Single-Stranded Conformational; Purpura, Thrombotic Thrombocytopenic - genetics; thrombotic thrombocytopenic purpura; Human; Hemolysis; Gene; Statistical association; Complement; Mutation; Molecular biology; Uremia; Polymorphism