The functional deficiency of apolipoprotein CII Toronto is caused by a single nucleotide deletion leading to premature protein termination.
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Clarifies molecular basis of apoCII Toronto deficiency in model; leaves open human translation and therapeutic targeting.
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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Cox et al. (1988) studied this question.
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