Genetic analysis of voltage-dependent calcium channels

被引：11

作者：

Fletcher, CF ^{[1
]}

Copeland, NG ^{[1
]}

Jenkins, NA ^{[1
]}

机构：

[1] NCI, Mammalian Genet Lab, ABL Basic Res Program, Frederick Canc Res & Dev Ctr, Frederick, MD 21702 USA

来源：

JOURNAL OF BIOENERGETICS AND BIOMEMBRANES | 1998年 / 30卷 / 04期

关键词：

voltage-dependent calcium channels; calcium release channels; mutations; disease loci; paroxysmal disorders; triplet repeats;

D O I：

10.1023/A:1021993723565

中图分类号：

Q6 [生物物理学];

学科分类号：

071011 ;

摘要：

Molecular cloning of calcium channel subunit genes has identified an unexpectedly large number of genes and splicing variants, and a central problem of calcium channel biology is to now understand the functional significance of this genetic complexity. While electrophyisological. pharmacological, and molecular cloning techniques are providing one level of understanding, a complete understanding will require many additional kinds of studies, including genetic studies done in intact animals. In this regard, an intriguing variety of episodic diseases have recently been identified that result from defects in calcium channel genes. A study of these diseases illustrates the kind of insights into calcium channel function that can be expected from this method of inquiry.

引用

页码：387 / 398

页数：12

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