Budd-Chiari Syndrome with Multiple Thrombi due to a Familial Arg42Ser Mutation in the Protein C Gene
DNA sequence analysis. A c.125C>A substitution in the PROC sequence of the proband. The CGT encoding Arg42 at the processing cleavage site, which is recognized by the processing enzyme, is changed to AGT, encoding Ser. This mutation was also identified in her father and her younger brother but not in her mother.
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