Cox D W, Wills D E, Quan F, Ray P N
Research Institute, Hospital for Sick Children, Toronto, Canada.
J Med Genet. 1988 Oct;25(10):649-52. doi: 10.1136/jmg.25.10.649.
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.