Variant-specific quantification of factor H in plasma identifies null alleles associated with atypical hemolytic uremic syndrome

Kidney International

Volumn 78, Issue 8, 2010, Pages 782-788

  Hakobyan, Svetlana ^a   Tortajada, Agustín ^a,b   Harris, Claire L ^a   De Córdoba, Santiago R ^b   Morgan, Bryan P ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b CENTRO DE INVESTIGACIONES BIOLÓGICAS   (Spain)

Author keywords

complement; family history; hemolytic uremic syndrome; polymorphisms

Indexed keywords

COMPLEMENT FACTOR H; FACTOR H LIKE 1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ALTERNATIVE RNA SPLICING; ARTICLE; ATYPICAL HEMOLYTIC UREMIC SYNDROME; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; FAMILY STUDY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HEMOLYTIC UREMIC SYNDROME; HETEROZYGOTE; HUMAN; MALE; MUTATIONAL ANALYSIS; NULL ALLELE; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; RNA SPLICING;

EID: 77957575143     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/ki.2010.275     Document Type: Article

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