Abstract
At the present time the defect that causes apo CII deficiency is not known. One possibility is that there is a mutation in an enzyme involved in the correct processing or catabolism of the apoprotein. However, since heterozygotes for the deficiency produce decreased amounts of functionally normal apo CII, it seems more likely that the deficiency is caused by a mutation in the apo CII gene itself. In order to investigate this problem at the molecular level we have used our recently isolated cDNA clone for apo CII (1), to study the structure of the gene in the family of a patient with apo CII deficiency. Clinical information and chemical studies on the patients have been reported previously (2).
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References
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© 1986 Springer Science+Business Media New York
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Humphries, S.E., Stalenhoef, A., Wallis, S. (1986). Familial Apolipoprotein CII Deficiency: An Analysis of the Gene Defect in a Dutch Family. In: Sirtori, C.R., Nichols, A.V., Franceschini, G. (eds) Human Apolipoprotein Mutants. NATO ASI Series, vol 112. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-9474-1_23
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DOI: https://doi.org/10.1007/978-1-4615-9474-1_23
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