Inherited Deficiency of Membrane Cofactor Protein Expression and Varying Manifestations of Recurrent Atypical Hemolytic Uremic Syndrome in a Sibling Pair

American Journal of Kidney Diseases

Volumn 52, Issue 2, 2008, Pages

  Couzi, Lionel ^a,b,c   Contin Bordes, Cécile ^a,b,c   Marliot, Florence ^d   Sarrat, Anne ^a   Grimal, Pierre ^e   Moreau, Jean François ^a,b,c   Merville, Pierre ^a,b,c   Fremeaux Bacchi, Véronique ^d  

^a HÔPITAL PELLEGRIN   (France)

^b CNRS Bordeaux Segalen University   (France)

^c UNIVERSITÉ DE BORDEAUX   (France)

^d HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^e CENTRE HOSPITALIER DE LA CÔTE BASQUE   (France)

Author keywords

atypical hemolytic and uremic syndrome; CD46; Complement; homozygous null mutation; MCP; membrane cofactor protein

Indexed keywords

AMOXICILLIN; COMPLEMENT FACTOR H; CYTOSINE; FIBRINOGEN; GUANINE; MEMBRANE COFACTOR PROTEIN; MESSENGER RNA; NUCLEOTIDE;

ADULT; AMINO ACID SUBSTITUTION; ANAMNESIS; ANTIGEN EXPRESSION; ARTICLE; BRONCHITIS; CASE REPORT; COMPARATIVE GENE MAPPING; DISEASE FREE SURVIVAL; DNA SPLICING; DONOR SITE; ENZYME LINKED IMMUNOSORBENT ASSAY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HEMOLYTIC UREMIC SYNDROME; HOMOZYGOSITY; HUMAN; INTRON; KIDNEY BIOPSY; MALE; MEMBRANE COFACTOR PROTEIN DEFICIENCY; NULL ALLELE; OUTCOME ASSESSMENT; PLASMAPHERESIS; PROTEIN DEFICIENCY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RISK FACTOR; RNA SEQUENCE; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOTIC THROMBOCYTOPENIC PURPURA;

EID: 47149084583     PISSN: 02726386     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.ajkd.2008.02.359     Document Type: Article

References (13)

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