2. Academic Validation
  3. A deletion of one nucleotide results in functional deficiency of apolipoprotein CII (apo CII Toronto)

A deletion of one nucleotide results in functional deficiency of apolipoprotein CII (apo CII Toronto)

  • J Med Genet. 1988 Oct;25(10):649-52. doi: 10.1136/jmg.25.10.649.
D W Cox 1,  D E Wills,  F Quan,  P N Ray
Affiliations

Affiliation

  • 1 Research Institute, Hospital for Sick Children, Toronto, Canada.
PMID: 3225819 DOI: 10.1136/jmg.25.10.649
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.

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