A de novo deletion in the regulators of complement activation cluster producing a hybrid complement factor H/complement factor H-related 3 gene in atypical hemolytic uremic syndrome

Journal of the American Society of Nephrology

Volumn 27, Issue 6, 2016, Pages 1617-1624

  Challis, Rachel C ^a   Araujo, Geisilaine S R ^a   Wong, Edwin K S ^a   Anderson, Holly E ^a   Awan, Atif ^b   Dorman, Anthony M ^c   Waldron, Mary ^b   Wilson, Valerie ^a   Brocklebank, Vicky ^a   Strain, Lisa ^a   Morgan, B Paul ^d   Harris, Claire L ^d   Marchbank, Kevin J ^a   Goodship, Timothy H J ^a   Kavanagh, David ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^c BEAUMONT HOSPITAL   (Ireland)

^d CARDIFF UNIVERSITY SCHOOL OF MEDICINE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT FACTOR H; COMPLEMENT FACTOR H RELATED 3; COMPLEMENTARY DNA; CREATININE; ECULIZUMAB; GENOMIC DNA; HYBRID PROTEIN; LACTATE DEHYDROGENASE; SPACER DNA; UNCLASSIFIED DRUG; UREA; CFHR3 PROTEIN, HUMAN; COMPLEMENT FACTOR H, HUMAN; PLASMA PROTEIN;

ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CELL SURFACE; COMPLEMENT ACTIVATION; COMPLEMENT BLOOD LEVEL; CREATININE BLOOD LEVEL; DNA END JOINING REPAIR; DNA FLANKING REGION; DONOR SITE; ESCHERICHIA COLI O157; EXON; FECES CULTURE; GENE CLUSTER; GENE DELETION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; GENOMIC INSTABILITY; HEMOLYTIC UREMIC SYNDROME; HETEROZYGOSITY; HOMOLOGOUS RECOMBINATION; HOSPITAL READMISSION; HUMAN; HUMAN TISSUE; HYBRID GENE; INFANT; KIDNEY BIOPSY; LACTATE DEHYDROGENASE BLOOD LEVEL; LOSS OF FUNCTION MUTATION; MALE; MOLECULAR RECOGNITION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PLASMA EXCHANGE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN DOMAIN; PROTEIN SECRETION; REGULATORY MECHANISM; SANGER SEQUENCING; SHIGA TOXIN PRODUCING ESCHERICHIA COLI; THROMBOTIC THROMBOCYTOPENIC PURPURA; UPPER RESPIRATORY TRACT INFECTION; UREA BLOOD LEVEL; WESTERN BLOTTING; ANIMAL; CELL CULTURE; GENETICS; SHEEP;

ANIMALS; ATYPICAL HEMOLYTIC UREMIC SYNDROME; BLOOD PROTEINS; CELLS, CULTURED; COMPLEMENT ACTIVATION; COMPLEMENT FACTOR H; GENE DELETION; HUMANS; SHEEP;

EID: 85013016536     PISSN: 10466673     EISSN: 15333450     Source Type: Journal    
DOI: 10.1681/ASN.2015010100     Document Type: Article

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