Article
A novel splice site mutation in intron C of PROS1 leads to markedly reduced mutant mRNA level, absence of thrombin-sensitive region, and impaired secretion and cofactor activity of mutant protein S.
Thrombosis research - 1 May 2010
Okada Hiromi, Kunishima Shinji, Hamaguchi Motohiro, Takagi Akira, Yamamoto Koji, Takamatsu Junki, Matsushita Tadashi, Saito Hidehiko, Kojima Tetsuhito, Yamazaki Tomio
Abstract excerpt
Protein S (PS) is a member of the vitamin K-dependent protein family containing similar gamma-carboxyglutamic acid (Gla) domains, although only PS has a thrombin-sensitive region (TSR), which is located between the Gla domain and the first epidermal growth factor-like domain. In this study, a nov...
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