Complement factor H variants I890 and L1007 while commonly associated with atypical hemolytic uremic syndrome are polymorphisms with no functional significance

Kidney International

Volumn 81, Issue 1, 2012, Pages 56-63

  Tortajada, Agustín ^a,b   Pinto, Sheila ^a,b   Martínez Ara, Jorge ^c   López Trascasa, Margarita ^b,c   Sánchez Corral, Pilar ^b,c   De Córdoba, Santiago Rodríguez ^a,b  

^a CENTRO DE INVESTIGACIONES BIOLÓGICAS   (Spain)

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

^c HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

complement factor H; disease associated mutations; hemolytic uremic syndrome

Indexed keywords

COMPLEMENT COMPONENT C3; COMPLEMENT COMPONENT C4; COMPLEMENT FACTOR H;

ADULT; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; COPY NUMBER VARIATION; GENE FUNCTION; GENE MUTATION; GENE SEGREGATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HEMOLYTIC UREMIC SYNDROME; HUMAN; POPULATION RESEARCH; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN POLYMORPHISM; REGULATORY MECHANISM; RETINA MACULA AGE RELATED DEGENERATION; SEQUENCE ANALYSIS;

EID: 83655191999     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/ki.2011.291     Document Type: Article

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