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    Blood Coagul Fibrinolysis. 1994 Aug;5(4):651-3.

    A novel homozygous missense mutation (Val 325-->Ala) in the protein C gene causing neonatal purpura fulminans.

    Witt I, Beck S, Seydewitz HH, Tasangil C, Schenck W.

    Biochemical Laboratory, Children's Hospital, University of Freiburg, Germany.

    A novel homozygous GTG-->GCG (Val 325-->Ala) substitution was detected in the protein C gene of a newborn causing severe purpura fulminans post partum. In the consanguineous parents and two further infants a heterozygous type 1 protein C deficiency was found. Up to now the heterozygous individuals are clinically unaffected. The mutation co-segregates with the protein C deficiency state. It creates a restriction enzyme (Sac II) cleavage site.

    PMID: 7841324 [PubMed - indexed for MEDLINE]

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