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

doi:10.1097/MPH.0b013e318179a15d

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Article

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

Journal of pediatric hematology/oncology - 1 Aug 2008

Ozlu Ferda, Kyotani Mayu, Taskin Erdal, Ozcan Kenan, Kojima Tetsuhito, Matsushita Tadashi, Yapicioğlu Hacer, Takagi Akira, Saşmaz Ilgen, Satar Mehmet, Narli Nejat

Abstract excerpt

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...

Topics

Base Sequence
Disseminated Intravascular Coagulation
Female
Homozygote
Humans
IgA Vasculitis
Infant, Newborn
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction
Protein C Deficiency

Source

Open in PubMed

Identifiers

PMID: 18799939
DOI: 10.1097/MPH.0b013e318179a15d

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