Article
The molecular basis of hereditary complement factor I deficiency.
The Journal of clinical investigation - 15 Feb 1996
Vyse T J, Morley B J, Bartok I, Theodoridis E L, Davies K A, Webster A D, Walport M J
Abstract excerpt
The molecular basis of hereditary complement factor I deficiency is described in two pedigrees. In one pedigree, there were two factor I-deficient siblings, one of whom was asymptomatic and the other suffered from recurrent pyogenic infections. Their factor I mRNA was analyzed by reverse transcription of fibroblast RNA followed by amplification using the polymerase chain reaction. Both siblings were homozygous...
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