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Article

A novel type II complement C2 deficiency allele in an African-American family.

Journal of immunology (Baltimore, Md. : 1950) - 15 Jul 1998

Zhu Z B, Atkinson T P, Volanakis J E

Abstract excerpt

A 9-yr-old African-American male presenting with severe recurrent pyogenic infections was found to have C2 deficiency (C2D). Analysis of his genomic DNA demonstrated that he carried one type I C2D allele associated with the HLA-A25, B18, DR15 haplotype. Screening all 18 exons of the C2 gene by exon-specific PCR/single-strand conformation polymorphism indicated abnormal bands in exons 3, 7, and 6, the latter...

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PMID: 9670930

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