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

机译:补体成分C6,C7和C9的参考类型报告,包括导致缺陷的突变。

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摘要

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.
机译:目前的结果(第七次补体遗传学研讨会和会议,美因茨,1998年5月)和有关末端补体成分C6,C7和C9的以往参考打字研讨会的结果在蛋白质水平和DNA水平上进行了讨论。该报告还着重于表达和沉默多态性的分子基础,并综述了这些蛋白质的小计和完全缺陷的分子基础,以及它们与蛋白质和DNA标记物的关联。 C6蛋白质分型的结果发表在本期的以下论文中。

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