A deletion of one nucleotide results in functional deficiency of apolipoprotein CII (apo CII Toronto). Issue 10 (October 1988)

• Record Type: Journal Article
• Authors: Cox, D W; Wills, D E; Quan, F; Ray, P N
• Is Part Of: Journal of medical genetics. Volume 25:Issue 10(1988)
• Page Start: 649
• Page End: 652
• Publication Date: 1988-10
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.25.10.649
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Apolipoprotein CII Toronto is a mutant non-functional apo CII resulting in apo CII deficiency. A portion of the mutant apo CII gene was cloned into lambda gt10 and subclones were sequenced. A deletion of one base was found in the codon for amino acid Thr68, resulting in alteration of six amino acids and premature termination of the protein at amino acid 74.