Twelve novel and two recurrent mutations in 14 Austrian families with hereditary protein C deficiency. 
The molecular basis of hereditary type I and type II protein C deficiency was studied in a panel of 14 unrelated Austrian families.  By direct sequencing of the nine exons and their splice junctions sequence alterations were found in one of the protein C alleles in all but one subject.  In twelve subjects a single alteration was found whereas in one subject one of the protein C alleles carried two sequence abnormalities.  Whenever DNA from family members was available (11 of the 14 cases) cosegregation of the protein C deficiency with the mutation was observed.  In contrast to what has been found previously in a panel of Dutch patients with hereditary protein C deficiency, none of the 14 mutations occurred in more than one family.  Only two of the genetic defects (157Arg-->Stop and 178Arg-->Gln) have been found previously in other geographic locations.  These data confirm the large genetic heterogeneity of protein C deficiency.