Article
Molecular defects of the C7 gene in two patients with complement C7 deficiency.
Immunology - 1 Jun 2006
Barroso Sonia, Rieubland Claudine, José álvarez Antonia, López-Trascasa Margarita, Bart Pierre-Alexandre, Núñez-Roldán Antonio, Sánchez Berta
Abstract excerpt
Different genetic mutations have been described in complement components resulting in total or subtotal deficiency states. In this work we report the genetic basis of C7 deficiency in a previously reported Spanish patient exhibiting a combined total deficiency of C7 and C4B associated with systemic lupus erythematosus. Exon-specific polymerase chain reaction and sequencing revealed a not previously described...
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