Characterization of non-expressed C4 genes in a case of complete C4 deficiency: identification of a novel point mutation leading to a premature stop codon
GN Fredrikson, B Gullstrand, PM Schneider… - Human immunology, 1998 - Elsevier
The genetic basis of complete C4 deficiency in a patient with SLE was investigated.
Previous studies have demonstrated that this patient has two different major
histocompatibility complex (MHC) haplotypes that each contain a major deletion and a non-
expressed C4 gene. In the present study, non-expression of the C4 genes was explained by
the finding of two distinct C4 gene mutations. A previously described two base pair insertion
in exon 29 of the C4 gene was detected in the paternal MHC haplotype [HLA-A2, B40 …
Previous studies have demonstrated that this patient has two different major
histocompatibility complex (MHC) haplotypes that each contain a major deletion and a non-
expressed C4 gene. In the present study, non-expression of the C4 genes was explained by
the finding of two distinct C4 gene mutations. A previously described two base pair insertion
in exon 29 of the C4 gene was detected in the paternal MHC haplotype [HLA-A2, B40 …