Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: identification of seven novel mutations and three novel, apparently neutral, variants.
Espinosa-Parrilla Y.; Morell M.; Borrell M.; Souto J.C.; Fontcuberta J.; Estivill X.; Sala N.;
Hum. Mutat. 15:463-473(2000)
Cited for: VARIANTS THPH5 HIS-15; THR-640 AND LEU-667; VARIANTS SER-98; LYS-233 AND MET-559;
Identification of protein Salpha gene mutations including four novel mutations in eight unrelated patients with protein S deficiency.
Okada H.; Takagi A.; Murate T.; Adachi T.; Yamamoto K.; Matsushita T.; Takamatsu J.; Sugita K.; Sugimoto M.; Yoshioka A.; Yamazaki T.; Saito H.; Kojima T.;
Br. J. Haematol. 126:219-225(2004)
Cited for: VARIANTS THPH5 LEU-87; TYR-121; GLU-196; HIS-355 AND LEU-667;
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