A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1988-04

AUTHORS

Ruth A. McAdam, Dimitrios Goundis, Kenneth B. M. Reid

ABSTRACT

Southern blot analysis of the B-chain genes in one of eight C1q-deficient individuals revealed an abnormal banding pattern. The defect, which was homozygous, could be localized by restriction mapping to a single Taq I site within residue 150 in the coding region of the B-chain gene. DNA sequencing across the site revealed a stop codon that would cause premature termination of the protein product. No material corresponding to the A or C chains, or a truncated B chain, could be identified by antigenic analysis of the patient's serum, indicating that a complete B chain is required for secretion of a C1q molecule. More... »

PAGES

259-264

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00376120

DOI

http://dx.doi.org/10.1007/bf00376120

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1042371633

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/2894352


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