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  • Title: A neonate with homozygous protein C deficiency with a homozygous Arg178Trp mutation.
    Author: Ozlu F, Kyotani M, Taskin E, Ozcan K, Kojima T, Matsushita T, Yapicioğlu H, Takagi A, Saşmaz I, Satar M, Narli N.
    Journal: J Pediatr Hematol Oncol; 2008 Aug; 30(8):608-11. PubMed ID: 18799939.
    Abstract:
    Homozygous protein C deficiency affects approximately 1/400,000 to 1/1,000,000 live births. Homozygous protein C deficiency is associated with catastrophic and fatal purpura fulminans-like or thrombotic complications and disseminated intravascular coagulation. In the present patient, genetic study revealed Arg178Trp, a mutation found widely in European population; but this is the first case of homozygous Arg178Trp mutation who suffered from catastrophic purpura fulminans phenotype.
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