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Identification of novel coding mutation in C1qA gene in an African-American pedigree with lupus and C1q deficiency.
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Identification of novel coding mutation in C1qA gene in an African-American pedigree with lupus and C1q deficiency.
Identification of novel coding mutation in C1qA gene in an African-American pedigree with lupus and C1q deficiency. Lupus. 2012 Sep; 21(10):1113-8.
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subject areas
Adult
Adult
African Americans
African Americans
Amino Acid Substitution
Amino Acid Substitution
Base Sequence
Base Sequence
Codon, Initiator
Codon, Initiator
Complement C1q
Complement C1q
DNA Mutational Analysis
DNA Mutational Analysis
Female
Female
Genes, Recessive
Genes, Recessive
Homozygote
Homozygote
Humans
Humans
Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Male
Male
Pedigree
Pedigree
Point Mutation
Point Mutation
Young Adult
Young Adult
authors with profiles
Patrick Gaffney
R Hal Scofield