c.301C > T (p.Arg101Cys): a novel mutation in the thrombin-sensitive region of protein S associated with a dysfunctional protein.
Franchi
Franca
F
A. Bianchi Bonomi Hemophilia and Thrombosis Centre, University of Milan and Department of Medicine and Medical Specialties, IRCCS Maggiore Hospital, Mangiagalli and Regina Elena Foundation, Milan, Italy. franca.franchi@unimi.it
Viscardi
Ylenia
Y
Razzari
Cristina
C
Faioni
Elena M
EM
Bonara
Paola
P
Biguzzi
Eugenia
E
Mannucci
Pier Mannuccio
PM
D000328:Adult; D015153:Blotting, Western; D020169:Caspases / Q000378:metabolism; D002460:Cell Line; D005091:Exons; D005434:Flow Cytometry; D006801:Humans; D007438:Introns; D008297:Male; D009154:Mutation; D017293:Protein S / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism*; D013917:Thrombin / Q000378:metabolism*; D020246:Venous Thrombosis / Q000097:blood* / Q000175:diagnosis / Q000235:genetics*
D017293:Protein S; D013917:Thrombin; D020169:Caspases