Identification of novel coding mutation in C1qA gene in an African-American pedigree with lupus and C1q deficiency

Lupus

Volumn 21, Issue 10, 2012, Pages 1113-1118

  Namjou, B ^a   Keddache, M ^a   Fletcher, D ^a   Dillon, S ^b   Kottyan, L ^a   Wiley, G ^b   Gaffney, P M ^b   Wakeland, B E ^c   Liang, C ^c   Wakeland, E K ^c   Scofield, R H ^b   Kaufman, K ^a   Harley, J B ^a  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b OKLAHOMA MEDICAL RESEARCH FOUNDATION   (United States)

^c UNIVERSITY OF TEXAS AT DALLAS   (United States)

Author keywords

C1q (complement); nephritis; Systemic lupus erythematosus

Indexed keywords

ARGININE; COMPLEMENT COMPONENT C1Q; METHIONINE;

ADULT; AFRICAN AMERICAN; AMINO ACID SUBSTITUTION; ARTICLE; COMPLEMENT COMPONENT C1Q DEFICIENCY; COMPLEMENT COMPONENT C1QA GENE; COMPLEMENT DEFICIENCY; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; GENE; GENE CLUSTER; GENE MUTATION; GENE SEQUENCE; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; PEDIGREE; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; START CODON; SYSTEMIC LUPUS ERYTHEMATOSUS;

ADULT; AFRICAN AMERICANS; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CODON, INITIATOR; COMPLEMENT C1Q; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; PEDIGREE; POINT MUTATION; YOUNG ADULT;

EID: 84865085621     PISSN: 09612033     EISSN: 14770962     Source Type: Journal    
DOI: 10.1177/0961203312443993     Document Type: Article

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