OMIA:001626-10141 : C4 deficiency in Cavia porcellus

Categories: Immune system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 120790 (trait) , 614380 (trait) , 614379 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: no

Cross-species summary: complement component-4 deficiency


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

1983 Whitehead, A.S., Goldberger, G., Woods, D.E., Markham, A.F., Colten, H.R. :
Use of a cDNA clone for the fourth component of human complement (C4) for analysis of a genetic deficiency of C4 in guinea pig. Proc Natl Acad Sci U S A 80:5387-91, 1983. Pubmed reference: 6577433 .
1972 Colten, H.R., Parkman, R. :
Biosynthesis of C4 (fourth component of complement) by hybrids of C4-deficient guinea pig cells and HeLa cells. Science 176:1029-31, 1972. Pubmed reference: 5033180 .
1971 Ellman, L., Green, I., Judge, F., Frank, M.M. :
In vivo studies in C4-deficient guinea pigs. J Exp Med 134:162-75, 1971. Pubmed reference: 4254163 .
Frank, M.M., May, J., Gaither, T., Ellman, L. :
In vitro studies of complement function in sera of C4-deficient guinea pigs. J Exp Med 134:176-87, 1971. Pubmed reference: 4997584 .
1970 Ellman, L., Green, I., Frank, M. :
Genetically controlled total deficiency of the fourth component of complement in the guinea pig. Science 170:74-5, 1970. Pubmed reference: 4989151 .

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  • Created by Frank Nicholas on 11 Oct 2011