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Research Article
A deletion of one nucleotide results in functional deficiency of apolipoprotein CII (apo CII Toronto).
  1. D W Cox,
  2. D E Wills,
  3. F Quan,
  4. P N Ray
  1. Research Institute, Hospital for Sick Children, Toronto, Canada.

    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.

    https://doi.org/10.1136/jmg.25.10.649

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