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补体成分C6、C7和C9的参考分型报告,包括导致缺陷的突变。

Reference typing report for complement components C6, C7 and C9 including mutations leading to deficiencies.

作者信息

Würzner R, Witzel-Schlömp K, Tokunaga K, Fernie B A, Hobart M J, Orren A

机构信息

Institute of Hygiene, Leopold Franzens University, Innsbruck, Austria.

出版信息

Exp Clin Immunogenet. 1998;15(4):268-85. doi: 10.1159/000019082.

Abstract

The results of the present (VIIth Complement Genetics Workshop and Conference, Mainz, May 1998) and past reference typing workshops for the terminal complement components C6, C7 and C9 are compiled and discussed both on the protein level and on the DNA level. This report also focuses on the molecular bases of expressed and silent polymorphisms and reviews the molecular bases of subtotal and complete deficiencies of these proteins and their associations with protein and DNA markers. The results of the protein typing for C6 are published in the following paper of this issue.

摘要

本文(第七届补体遗传学研讨会及会议,美因茨,1998年5月)以及以往关于终末补体成分C6、C7和C9的参考分型研讨会的结果,在蛋白质水平和DNA水平上进行了汇总和讨论。本报告还重点关注了表达型和沉默型多态性的分子基础,并综述了这些蛋白质部分缺乏和完全缺乏的分子基础及其与蛋白质和DNA标记的关联。C6蛋白质分型的结果发表在本期的下一篇论文中。

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