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

OBJECTIVES: Homozygous C1q deficiency is an extremely rare condition and strongly associated with systemic lupus erythematosus. To assess and characterize C1q deficiency in an African-American lupus pedigree, C1q genomic region was evaluated in the lupus cases and family members. METHODS: Genomic DN...

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Bibliografische gegevens
Hoofdauteurs: Namjou, Bahram, Keddache, Mehdi, Fletcher, David, Dillon, Skyler, Kottyan, Leah, Wiley, Graham, Gaffney, Patrick M., Wakeland, Benjamin E., Liang, Chaoying, Wakeland, Edward K., Scofield, Hal, Kaufman, Kenneth, Harley, John B.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2012
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3508769/
https://ncbi.nlm.nih.gov/pubmed/22472776
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0961203312443993
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