R Würzner, K Witzel-Schlömp, K Tokunaga, B A Fernie, M J Hobart, A Orren
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引用次数: 0
摘要
本报告汇集了本次（1998 年 5 月在美因茨举行的第七届补体遗传学研讨会和会议）和以往针对末端补体成分 C6、C7 和 C9 的参考分型研讨会的成果，并从蛋白质层面和 DNA 层面进行了讨论。本报告还重点介绍了表达型和沉默型多态性的分子基础，并回顾了这些蛋白质的次全缺和全缺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。
Reference typing report for complement components C6, C7 and C9 including mutations leading to deficiencies.
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.
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