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G蛋白偶联受体的突变与疾病

Mutations and diseases of G protein coupled receptors.

作者信息

Birnbaumer M

机构信息

Department of Cell Biology, Baylor College of Medicine, Houston, Texas 77030, USA.

出版信息

J Recept Signal Transduct Res. 1995 Jan-Mar;15(1-4):131-60. doi: 10.3109/10799899509045213.

Abstract

Currently known disease-causing mutations in G protein coupled receptors are reviewed and discussed in conjunction with other naturally occurring receptor mutations. Special emphasis is made on opsin, vasopressin and MSH receptor mutations and what they tell are beginning to tell us about the inner workings of this superfamily of signalling molecules.

摘要

本文综述并讨论了目前已知的G蛋白偶联受体中的致病突变,以及其他自然发生的受体突变。特别强调了视蛋白、血管加压素和促黑素受体突变,以及它们开始告诉我们的关于这个信号分子超家族内部运作的信息。

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