Those five patients had a normal C1-INH level but reduced C1-INH activity because mutations at this position alter the target protease recognition site of this protein. Hronometrazh rabochego vremeni socialjnogo rabotnika obrazec. In our cohort, 22% of all detected mutations were located in this region, whereas the previously reported frequencies were between 7 and 11% [,,,]. The identified substitutions and small deletions were distributed throughout the entire SERPING1 gene; specifically, 6% were located in the region from the promoter to intron 2, 33% in exon or intron 3, 22% in exon or intron 4, 22% in exon or intron 7 and 17% in exon 8. Interestingly, although the mutations were distributed throughout the entire SERPING1 gene, we detected a substantially higher frequency of mutations located in exon or intron 4 in comparison to other reports [,,,].

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