Genetics of atypical hemolytic uremic syndrome (aHUS)

Seminars in Thrombosis and Hemostasis

Volumn 40, Issue 4, 2014, Pages 422-430

  Rodríguez De Córdoba, Santiago ^a   Hidalgo, Marta Subías ^a   Pinto, Sheila ^a   Tortajada, Agustín ^a  

^a CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

aHUS; complement; thrombotic microangiopathy

Indexed keywords

ALTERNATIVE COMPLEMENT PATHWAY C3 C5 CONVERTASE; CD59 ANTIGEN; COMPLEMENT; COMPLEMENT COMPONENT C3B; COMPLEMENT FACTOR H; DECAY ACCELERATING FACTOR; DIACYLGLYCEROL KINASE; DIACYLGLYCEROL KINASE EPSILON; ECULIZUMAB; FACTOR H RELATED PROTEIN; FACTOR H RELATED PROTEIN 1; FACTOR H RELATED PROTEIN 2; FACTOR H RELATED PROTEIN 3; FACTOR H RELATED PROTEIN 5; THROMBOMODULIN; UNCLASSIFIED DRUG; AUTOANTIBODY; COMPLEMENT COMPONENT C3;

ARTICLE; COPY NUMBER VARIATION; GAIN OF FUNCTION MUTATION; GENETIC ANALYSIS; GENETIC PREDISPOSITION; GENOTYPE PHENOTYPE CORRELATION; HEMOLYTIC UREMIC SYNDROME; HUMAN; MICROVASCULATURE; MISSENSE MUTATION; PRIORITY JOURNAL; THROMBOTIC THROMBOCYTOPENIC PURPURA; GENETIC ASSOCIATION; GENETICS; HETEROZYGOTE; IMMUNOLOGY; INTRON; MUTATION; RNA SPLICING;

ATYPICAL HEMOLYTIC UREMIC SYNDROME; AUTOANTIBODIES; COMPLEMENT C3; COMPLEMENT FACTOR B; COMPLEMENT FACTOR H; COMPLEMENT SYSTEM PROTEINS; DIACYLGLYCEROL KINASE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; INTRONS; MUTATION; RNA SPLICING; THROMBOMODULIN; THROMBOTIC MICROANGIOPATHIES;

EID: 84902177244     PISSN: 00946176     EISSN: 10989064     Source Type: Journal    
DOI: 10.1055/s-0034-1375296     Document Type: Article

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