Article
The molecular basis of C6 deficiency in the western Cape, South Africa.
Human genetics - 1 Oct 1998
Hobart M J, Fernie B A, Fijen K A, Orren A
Abstract excerpt
Deficiency of the sixth component of human complement (C6) has been reported in a number of families from the western Cape, South Africa. Meningococcal disease is endemic in the Cape and almost all pedigrees of total C6 deficiency (C6Q0) have been ascertained because of recurrent disease. We have sequenced the expressed exons of the C6 gene from selected cases and have found three molecular defects leading to...
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