Impact of compound heterozygous complement factor H mutations on development of atypical hemolytic uremic syndrome-A pedigree revisited

Molecular Immunology

Volumn 47, Issue 7-8, 2010, Pages 1585-1591

  Johnson, S A ^a   Williams, J M ^b   Hakobyan, S ^c   Richards, A ^d   Perkins, S J ^e   Marchbank, K J ^f   Goodship, T H J ^f   Morgan, B P ^c   Taylor, C M ^g   Savage, C O S ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^c CARDIFF UNIVERSITY   (United Kingdom)

^d UNIVERSITY OF EDINBURGH   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f NEWCASTLE UNIVERSITY   (United Kingdom)

^g BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

Atypical hemolytic uremic syndrome; CFH mutation; Complement factor H; Complement regulation; Renal failure

Indexed keywords

COMPLEMENT FACTOR H;

ALLOTYPE; ARTICLE; CELL SURFACE; COMPLEMENT ACTIVATION; CONTROLLED STUDY; FAMILY STUDY; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HEMOLYTIC UREMIC SYNDROME; HETEROZYGOSITY; HUMAN; HUMAN CELL; MUTATIONAL ANALYSIS; NONHUMAN; PEDIGREE; PRIORITY JOURNAL; REGULATORY MECHANISM;

ANIMALS; COMPLEMENT FACTOR H; FEMALE; HEMOLYTIC-UREMIC SYNDROME; HETEROZYGOTE; HUMANS; MALE; MODELS, MOLECULAR; MUTATION; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; SHEEP;

EID: 77950629915     PISSN: 01615890     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.molimm.2009.12.001     Document Type: Article

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