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Article

Complement component C6 and C7 haplotypes associated with deficiencies of C6.

Annals of human genetics - 1 Apr 1995

Fernie B A, Orren A, Würzner R, Jones A M, Potter P C, Lachmann P J, Hobart M J

Abstract excerpt

Both complete C6-deficiency (C6*Q0) and subtotal C6-deficiency (C6*SD) have been described as simple recessive traits and C6*SD has been described in combination with subtotal deficiency of the C7 coded at an adjacent locus. The trace of C6 protein found in both C6*SD traits is phenotypically indistinguishable, being smaller than normal C6 and having different isoelectric properties. A defect has been found in...

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Identifiers

PMID: 7625765
DOI: 10.1111/j.1469-1809.1995.tb00740.x

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Complement component C6 and C7 haplotypes associated with deficiencies of C6.PMID 7625765Read ↗

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Hereditary complement C7 deficiency in nine families: subtotal C7 deficiency revisited.Semantic proximity Read ↗

C7 M/N protein polymorphism typing applied to inherited deficiencies of human complement proteins C6 and C7.Semantic proximity Read ↗

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