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大疱性表皮松解症的表型-基因型相关性

Phenotype-genotype correlations in epidermolysis bullosa.

作者信息

Gedde-Dahl T

出版信息

Birth Defects Orig Artic Ser. 1971 Jun;7(8):107-17.

PMID:5173253
Abstract

In Norway, epidermolysis bullosa (EB) has been studied from the clinical, genetic and epidemiologic viewpoints. Heterogeneity is found both in the EB simplex (EBS) and the EB dystrophica (EBD) group. One new EBS and two new EBD varieties were found in addition to previously known types. At least five nonidentical recessive EBD genes could be defined and suggestive evidence for allelism between some of them were found. A classification of hereditary EB is presented.

摘要

在挪威,已从临床、遗传学和流行病学角度对大疱性表皮松解症(EB)进行了研究。在单纯型大疱性表皮松解症(EBS)和营养不良型大疱性表皮松解症(EBD)组中均发现了异质性。除了先前已知的类型外,还发现了一种新的EBS和两种新的EBD变种。至少可以定义五个不同的隐性EBD基因,并发现了其中一些基因之间存在等位基因的提示性证据。本文提出了遗传性EB的分类。

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Ultrastructural studies in epidermolysis bullosa heriditaria. I. Dominant dystrophic type of Pasini.遗传性大疱性表皮松解症的超微结构研究。I. 帕西尼显性营养不良型。
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Ultrastructural studies in epidermolysis bullosa hereditaria. IV. Recessive dystrophic types with junctional blistering. (Infantile or Herlitz-Pearson type and adult type).
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Pathology of collagen degradation. A review.胶原蛋白降解的病理学。综述。
Am J Pathol. 1978 Aug;92(2):508-66.