Clinical presentations and molecular basis of complement C1r deficiency in a male African-American patient with systemic lupus erythematosus

Lupus

Volumn 20, Issue 11, 2011, Pages 1126-1134

  Wu, Y L ^a,b   Brookshire, B P ^c   Verani, R R ^c   Arnett, F C ^c   Yu, C Y ^a,b  

^a NATIONWIDE CHILDREN S HOSPITAL   (United States)

^b OHIO STATE UNIVERSITY   (United States)

^c UNIVERSITY OF TEXAS   (United States)

Author keywords

complement C1r; complement C4; non sense mutation; rare causal variants; systemic lupus erythematosus

Indexed keywords

COMPLEMENT COMPONENT C1R; COMPLEMENT COMPONENT C4A; COMPLEMENT COMPONENT C4B; SERINE PROTEINASE INHIBITOR;

AFRICAN AMERICAN; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 12P; COMPLEMENT COMPONENT C1R DEFICIENCY; DISEASE ASSOCIATION; DNA SEQUENCE; FAMILY HISTORY; GENE MUTATION; GLOMERULONEPHRITIS; HOMOZYGOSITY; HUMAN; MALE; MOLECULAR DYNAMICS; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SYSTEMIC LUPUS ERYTHEMATOSUS;

AFRICAN AMERICANS; BASE SEQUENCE; CODON, NONSENSE; COMPLEMENT C1R; COMPLEMENT C3; COMPLEMENT C4; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; GENE FREQUENCY; HOMOZYGOTE; HUMANS; INFANT; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 80053627280     PISSN: 09612033     EISSN: 14770962     Source Type: Journal    
DOI: 10.1177/0961203311404914     Document Type: Article

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