Article
Familial defective apolipoprotein B-100: a common cause of primary hypercholesterolemia.
The Clinical investigator - 1 Jan 1992
Rauh G, Keller C, Schuster H, Wolfram G, Zöllner N
Abstract excerpt
Familial defective apolipoprotein B-100 (FDB) is a recently identified dominantly inherited genetic disorder characterized by a decreased binding of low density lipoprotein (LDL) to the LDL receptor due to defective apo B-100. FDB is caused by a G to A mutation at nucleotide 10,708 in exon 26 of the apo B gene creating a substitution of glutamine for arginine in the codon for amino acid 3500. The arginine...
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