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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 [,,,]. Two families each with two affected members and one sporadic patient with C1-INH-HAE type II harboured the same well-known substitution affecting the arginyl residue at the reactive centre in exon 8, Arg444Cys, c.1396C>T [, –,,, –]. 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. Hronometrazh rabochego vremeni socialjnogo rabotnika obrazec. 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.