Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome

Human Mutation

Volumn 31, Issue 6, 2010, Pages

  Maga, Tara K ^a   Nishimura, Carla J ^a   Weaver, Amy E ^a   Frees, Kathy L ^a   Smith, Richard J H ^a  

^a UNIVERSITY OF IOWA   (United States)

Author keywords

aHUS; Alternative pathway; Complement; Kidney disease

Indexed keywords

COMPLEMENT; ALTERNATIVE COMPLEMENT PATHWAY C3 C5 CONVERTASE; COMPLEMENT COMPONENT C3; COMPLEMENT FACTOR H; COMPLEMENT FACTOR I; FHR5 PROTEIN, HUMAN; MEMBRANE COFACTOR PROTEIN; THROMBOMODULIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; COMPLEMENT ALTERNATIVE PATHWAY; CONTROLLED STUDY; ETHNIC OR RACIAL ASPECTS; FRAMESHIFT MUTATION; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC PREDISPOSITION; GENETIC SCREENING; HEMOLYTIC UREMIC SYNDROME; HETEROZYGOTE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SPLICING DEFECT; COHORT ANALYSIS; GENETICS; HEMOLYTIC-UREMIC SYNDROME; INCIDENCE; MUTATION; UNITED STATES;

ANTIGENS, CD46; COHORT STUDIES; COMPLEMENT C3; COMPLEMENT FACTOR B; COMPLEMENT FACTOR H; COMPLEMENT FACTOR I; COMPLEMENT PATHWAY, ALTERNATIVE; COMPLEMENT SYSTEM PROTEINS; DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HEMOLYTIC-UREMIC SYNDROME; HUMANS; INCIDENCE; MUTATION; THROMBOMODULIN; UNITED STATES;

EID: 77952682366     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21256     Document Type: Article

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