title: Mutations of the low-density-lipoprotein receptor gene and familial hypercholesterolemia.
abstract: Familial hypercholesterolemia (FH), an autosomal dominant disorder caused by mutation of the low-density-lipoprotein (LDL) receptor, occurs in about one in 500 individuals. The evaluation of naturally occurring mutants has permitted an extensive structure-function analysis of this receptor that has provided insight into the biochemistry and cell biology of cell-surface receptors in general. Novel gene therapeutic approaches to the management of FH are a developing outgrowth of this research.
authors.affiliation: The Departments of Medicine and Pharmacology, Columbia College of Physicians and Surgeons, New York, NY 10032, USA.
authors.forename: N S
authors.initials: NS
authors.lastname: Shachter
authors.forename: J
authors.initials: J
authors.lastname: Weinberger