Article
Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity.
The Journal of clinical investigation - 1 Mar 1995
Pullinger C R, Hennessy L K, Chatterton J E, Liu W, Love J A, Mendel C M, Frost P H, Malloy M J, Schumaker V N, Kane J P
Abstract excerpt
Detection of new ligand-defective mutations of apolipoprotein B (apoB) will enable identification of sequences involved in binding to the LDL receptor. Genomic DNA from patients attending a lipid clinic was screened by single-strand conformation polymorphism analysis for novel mutations in the putative LDL receptor-binding domain of apoB-100. A 46-yr-old woman of Celtic and Native American ancestry with primary...
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