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大疱性表皮松解症:分裂与聚集。

Epidermolysis bullosa: to split and to clump.

作者信息

Eady R A

机构信息

St. John's Institute of Dermatology, St. Thomas's Hospital, London, UK.

出版信息

Pediatr Dermatol. 1992 Dec;9(4):361-4. doi: 10.1111/j.1525-1470.1992.tb00631.x.

Abstract

During the past few years various proteins have come to the forefront as underlying the structural abnormalities of different forms of epidermolysis bullosa. Only very recently has linkage been established between certain major forms of epidermolysis bullosa and the genes encoding some of these proteins, and mutations of these genes identified. The stage will soon be set for providing a new and rational basis for a better understanding of the pathogenesis of epidermolysis bullosa, for improving diagnosis, including prenatal testing, and for devising new approaches to treatment.

摘要

在过去几年中,各种蛋白质已成为不同形式大疱性表皮松解症结构异常的潜在因素。直到最近,某些主要形式的大疱性表皮松解症才与编码其中一些蛋白质的基因建立了联系,并确定了这些基因的突变。不久之后,将为更好地理解大疱性表皮松解症的发病机制、改进诊断(包括产前检测)以及设计新的治疗方法提供一个新的合理依据。

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