Molecular basis of a new type of C1q-deficiency associated with a non-functional low molecular weight (LMW) C1q: parallels and differences to other known genetic C1q-defects.
Petry F, Hauptmann G, Goetz J, Grosshans E, Loos M Immunopharmacology 1997(1-2): 189-201
[PubMed abstract].
1988
A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual.
McAdam RA, Goundis D, Reid KB Immunogenetics 1988(4): 259-64
[PubMed abstract].
