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A neonate with hombzygous protein C deficiency with a homozygous Arg178Trp mutation

By Ferda Ozlu, Mayu Kyotani, Erdal Taskin, Kenan Ozcan, Tetsuhito Kojima, Tadashi Matsushita and Hacer Yapicioglu

Abstract

WOS: 000258263000009PubMed ID: 18799939Homozygous 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

Topics: homozygous protein C deficiency, Arg178Trp mutation, purpura fulminans
Publisher: LIPPINCOTT WILLIAMS & WILKINS
Year: 2008
DOI identifier: 10.1097/MPH.0b013e318179a15d
OAI identifier: oai:openaccess.cu.edu.tr:20.500.12605/6490
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