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.
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页码：245 / 249
页数：5
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