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Article

Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (ASP549 to ASN) impairs C3 secretion.

The Journal of biological chemistry - 11 Nov 1994

Singer L, Whitehead W T, Akama H, Katz Y, Fishelson Z, Wetsel R A

Abstract excerpt

We recently described a case of hereditary complement C3 deficiency (C3D) in a New Zealand male who has a small amount of serum C3 (7 micrograms/ml), a normal size 5.2-kilobase C3 mRNA that is present in normal quantities, and a normal size M(r) 180,000 proC3 molecule that is synthesized in normal amounts. Secretion of C3 from this patient's cells was greatly diminished, however, and an aberrant C3 trypsin...

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PMID: 7961791

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