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Article

Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis.

Thrombosis research - 1 May 2009

Miyata Toshiyuki, Sato Yukiko, Ishikawa Junko, Okada Hiromi, Takeshita Satoshi, Sakata Toshiyuki, Kokame Koichi, Kimura Rina, Honda Shigenori, Kawasaki Tomio, Suehisa Etsuji, Tsuji Hajime, Madoiwa Seiji, Sakata Yoichi, Kojima Tetsuhito, Murata Mitsuru, Ikeda Yasuo

Abstract excerpt

INTRODUCTION: Genetic deficiencies of PROS1, PROC, and SERPINC1 (antithrombin) are risk factors for deep vein thrombosis (DVT). Diagnosis of the inherited deficiencies of these three genes is sometimes difficult because of the phenotypic variability. This study was undertaken to reveal the frequency of nonsynonymous mutations of these three genes in Japanese DVT patients. PATIENTS/METHODS: One hundred...

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Identifiers

PMID: 18954896
DOI: 10.1016/j.thromres.2008.08.020

Genes

PROS1
PROC
SERPINC1

Variants

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