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. 1980 Apr;39(4):541–549.

Studies on the C2-deficiency gene in man.

J P Mortensen, L Buskjaer, L U Lamm
PMCID: PMC1458027  PMID: 7380478

Abstract

A one-step haemolytic assay using cellular intermediates was used to determine C2 levels in 50 HLA-A25 and B18 positive blood donors and four families suspected to have the C2-deficiency gene. The method clearly discriminated between homozygous normals and heterozygous deficient individuals, and it was found that approx. 50% of individuals with the haplotype HLA-A25, B18 had low levels of functional C2. In the four families studied, the close linkage of the C2-deficiency gene and the haplotype HLA-A25, B18 was confirmed. Furthermore, the C2-deficiency gene was shown to be a silent or null allele at the structural locus.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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