Article
Prevalence of mutations leading to complete C6 deficiency (C6Q0) in the Western Cape, South Africa and detection of novel mutations leading to C6Q0 in an Irish family.
Molecular immunology - 1 Apr 2007
Parham Kelly L, Roberts Andrew, Thomas Andrew, Würzner Reinhard, Henderson Howard E, Potter Paul C, Morgan B Paul, Orren Ann
Abstract excerpt
Complement component C6 is one of five terminal complement components incorporated into the membrane attack complex. Complete deficiency of C6 (C6Q0) leads to an increased susceptibility to Neisseria meningitidis infections, and affected individuals typically present with recurrent meningococcal disease. There is a relatively high prevalence of C6Q0 in the Western Cape, South Africa and three frameshift mutations...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.