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

Autor: Okada, Hiromi, Kunishima, Shinji, Hamaguchi, Motohiro, Takagi, Akira, Yamamoto, Koji, Takamatsu, Junki, Matsushita, Tadashi, Saito, Hidehiko, Kojima, Tetsuhito, Yamazaki, Tomio
Zdroj: In Thrombosis Research 2010 125(5):e246-e250
Databáze: ScienceDirect