Molecular basis of hereditary C3 deficiency.

doi:10.1172/JCI114821

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Article

Molecular basis of hereditary C3 deficiency.

The Journal of clinical investigation - 1 Oct 1990

Botto M, Fong K Y, So A K, Rudge A, Walport M J

Abstract excerpt

Hereditary deficiency of complement component C3 in a 10-yr-old boy was studied. C3 could not be detected by RIA of serum from the patient. Segregation of C3 S and C3 F allotypes within the family confirmed the presence of a null gene for C3, for which the patient was homozygous. 30 exons have be...

Topics

Base Sequence
Child
Complement C3
DNA
Exons
Female
Humans
Male
Mutation
Polymerase Chain Reaction
RNA Splicing

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