Article
Molecular defects leading to human complement component C6 deficiency in an African-American family.
Clinical and experimental immunology - 1 Jan 1998
Zhu Z B, Totemchokchyakarn K, Atkinson T P, Volanakis J E
Abstract excerpt
Complement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined...
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