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Article

The human complement C9 gene: identification of two mutations causing deficiency and revision of the gene structure.

Journal of immunology (Baltimore, Md. : 1950) - 15 May 1997

Witzel-Schlömp K, Späth P J, Hobart M J, Fernie B A, Rittner C, Kaufmann T, Schneider P M

Abstract excerpt

The ninth component of human complement (C9) is the last of the terminal complement components creating the membrane attack complex. C9 is a single-chain serum protein that is encoded by a gene located on chromosome 5p. Deficiency of terminal complement components is generally associated with recurrent neisseria infections. We studied a previously described Swiss family with inherited C9 deficiency. To identify...

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PMID: 9144525

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