Identification of a Point Mutation in Growth Factor Repeat C of the Low Density Lipoprotein-Receptor Gene in a Patient with Homozygous Familial Hypercholesterolemia that Affects Ligand Binding and Intracellular Movement of Receptors

The coding region of the low density lipoprotein (LDL)-receptor gene from a patient (MM) with homozygous familial hypercholesterolemia (FH) has been sequenced from six overlapping 500-base-pair amplified fragments of the cDNA from cultured skin fibroblasts. Two separate single nucleotide base change...

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