MUTATIONS OF THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE AND FAMILIAL HYPERCHOLESTEROLEMIA

被引：0

作者：

SHACHTER, NS ^{[1
]}

WEINBERGER, J ^{[1
]}

机构：

[1] COLUMBIA COLL PHYSICIANS & SURGEONS,DEPT PHARMACOL,NEW YORK,NY 10032

来源：

TRENDS IN ENDOCRINOLOGY AND METABOLISM | 1994年 / 5卷 / 06期

关键词：

D O I：

10.1016/1043-2760(94)P3083-J

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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 ave a developing outgrowth of this research.

引用

页码：245 / 249

页数：5

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