Article
Gene analysis of heterozygous protein C deficiency in a patient with pulmonary arterial thromboembolism.
The American review of respiratory disease - 1 Jun 1992
Ohwada A, Takahashi H, Uchida K, Nukiwa T, Kira S
Abstract excerpt
A 16-yr-old male patient with heterozygous protein C deficiency developed acute pulmonary thromboembolism. The patient had low levels of plasma protein C antigen and activity (33 and 35% of normal, respectively). Analysis of the protein C gene by polymerase chain reaction (PCR) and direct sequencing revealed a nucleotide substitution (Arg169CGG----Trp169 TGG) in exon VII. This mutation is identical with protein C...
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