(A) Pedigree of case C-17. Mutation R398Q (hatched symbols) and Taq I-A associated with exon 1: −8 (g → c) (solid symbols). (A) Pedigree of case C-17 with a CRM-negative phenotype. For all individuals C-17 through C-21, the protein C, protein S, AT III, and plasminogen levels were in the normal range, and the factor V-Leiden mutation was excluded.39 Patient C-20 suffered from recurrent deep vein thrombosis and pulmonary embolism, and C-17 had a stroke and peripheral vascular disease. (B) Clotting parameters and genotypes. (C) Automatic sequence analysis of wild-type exon 10 (forward). (D) Automatic sequence analysis of a heterozygous patient C-17. Mutated exon 10: R398Q(9998 G → A) and wild-type sequence. (E) Reverse sequence of patient C-17. The arrow indicates the mutation.