Manifestation of atypical hemolytic uremic syndrome caused by novel mutations in MCP

Pediatric Nephrology

Volumn 27, Issue 1, 2012, Pages 73-81

  Provaznikova, Dana ^a   Rittich, Simon ^a   Malina, Michal ^b   Seeman, Tomas ^b   Marinov, Iuri ^a   Riedl, Magdalena ^c   Hrachovinova, Ingrid ^a  

^a INSTITUTE OF HEMATOLOGY AND BLOOD TRANSFUSION   (Czech Republic)

^b UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^c INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

aHUS; Kidney disease; Membrane cofactor protein (MCP CD46); Thrombocytopenia; Thrombotic microangiopathy

Indexed keywords

COMPLEMENT COMPONENT C3; COMPLEMENT FACTOR H; COMPLEMENT FACTOR I; MEMBRANE COFACTOR PROTEIN;

ADOLESCENT; ADULT; ARTICLE; ATYPICAL HEMOLYTIC UREMIC SYNDROME; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CZECH REPUBLIC; DISEASE SEVERITY; FEMALE; GENE; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENETIC ANALYSIS; GRANULOCYTE; HEMOLYTIC UREMIC SYNDROME; HETEROZYGOTE; HUMAN; MALE; NUCLEOTIDE SEQUENCE; ONSET AGE; PENETRANCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT DISEASE; SCHOOL CHILD; SCR2 GENE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AGE OF ONSET; ANTIGENS, CD46; CHILD; CZECH REPUBLIC; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GRANULOCYTES; HEMOLYTIC-UREMIC SYNDROME; HUMANS; MALE; MUTATION; PEDIGREE; PENETRANCE; PHENOTYPE; PROGNOSIS; RECURRENCE; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 83655163908     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-011-1943-5     Document Type: Article

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