Genetic analysis and functional characterization of novel mutations in a series of patients with atypical hemolytic uremic syndrome

Molecular Immunology

Volumn 71, Issue , 2016, Pages 10-22

  Szarvas, Nóra ^a   Szilágyi, Ágnes ^a   Csuka, Dorottya ^a   Takács, Beáta ^a   Rusai, Krisztina ^b   Müller, Thomas ^b   Arbeiter, Klaus ^b   Réti, Marienn ^c   Haris, Ágnes ^d   Wagner, László ^e   Török, Szilárd ^e   Kelen, Kata ^e   Szabó, Attila J ^e   Reusz, György S ^e   Morgan, B Paul ^f   Prohászka, Zoltán ^a  

^a SEMMELWEIS UNIVERSITY OF MEDICINE   (Hungary)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

^c Szent Laszlo Hospital   (Hungary)

^d St Margit Hospital   (Hungary)

^e SEMMELWEIS UNIVERSITY   (Hungary)

^f CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

Atypical hemolytic uremic syndrome; CFH; Complement; Mutation; Y402H

Indexed keywords

COMPLEMENT FACTOR H; MEMBRANE COFACTOR PROTEIN; ALTERNATIVE COMPLEMENT PATHWAY C3 C5 CONVERTASE; COMPLEMENT COMPONENT C3; COMPLEMENT FACTOR I;

ADOLESCENT; ADULT; ARTICLE; BLOOD SAMPLING; CHILD; CLINICAL ARTICLE; COMPUTER MODEL; DISEASE ASSOCIATION; DISEASE COURSE; FAMILY; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC RISK; GENETIC VARIABILITY; HEMOLYSIS ASSAY; HEMOLYTIC UREMIC SYNDROME; HUMAN; IMMUNOASSAY; INFANT; MALE; PENETRANCE; PRIORITY JOURNAL; PROSPECTIVE STUDY; DNA MUTATIONAL ANALYSIS; ENZYME LINKED IMMUNOSORBENT ASSAY; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; MIDDLE AGED; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; NEWBORN; PRESCHOOL CHILD; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; YOUNG ADULT;

ADOLESCENT; ADULT; ATYPICAL HEMOLYTIC UREMIC SYNDROME; CHILD; CHILD, PRESCHOOL; COMPLEMENT C3; COMPLEMENT FACTOR B; COMPLEMENT FACTOR H; COMPLEMENT FACTOR I; DNA MUTATIONAL ANALYSIS; ENZYME-LINKED IMMUNOSORBENT ASSAY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INFANT, NEWBORN; MALE; MIDDLE AGED; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; YOUNG ADULT;

EID: 84955438461     PISSN: 01615890     EISSN: 18729142     Source Type: Journal    
DOI: 10.1016/j.molimm.2016.01.003     Document Type: Article

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