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[红细胞膜遗传性疾病:从临床方面到潜在的遗传和分子机制]

[Hereditary diseases of erythrocyte membrane: from clinical aspects to underlying genetical and molecular mechanisms].

作者信息

Bichis M, Huber A R

机构信息

Zentrum für Labormedizin, Kantonsspital Aarau, 5001 Aarau, Suisse.

出版信息

Ann Biol Clin (Paris). 2000 May-Jun;58(3):277-89.

Abstract

During the past years many studies on erythrocyte membrane structure and function have allowed for exponential development of this field. Inborn errors of red cell membrane include a variety of disorders characterized by alterations of the membrane skeleton or other membrane proteins. Most recently, many studies have been published using methods from molecular biology allowing for clarification of genotype phenotype relationship. This review outlines in details clinical aspects and organisational consequences of defects molecules of membrane proteins and skeleton and their contributions to the pathophysiology of hemolytic anaemia.

摘要

在过去的几年里,许多关于红细胞膜结构和功能的研究推动了该领域的快速发展。红细胞膜的先天性缺陷包括多种以膜骨架或其他膜蛋白改变为特征的疾病。最近,利用分子生物学方法发表了许多研究,从而阐明了基因型与表型的关系。这篇综述详细概述了膜蛋白和骨架缺陷分子的临床方面和组织后果,以及它们对溶血性贫血病理生理学的影响。

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