A method for screening for the presence of a genetic defect...

Details A method for screening for the presence of a genetic defect... A method for screening for the presence of a genetic defect...

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) C07H 21/00 (2006.01) C07K 14/745 (2006.01) C07K 16/36 (2006.01) C07K 16/40 (2006.01) C12Q 1/68 (2006.01) G01N 33/566 (2006.01) G01N 33/573 (2006.01) G01N 33/577 (2006.01) G01N 33/86 (2006.01)

Patent

CA 2159907

Method for screening for the presence of a genetic defect associated with thrombosis and/or poor anticoagulant response to activated protein C (APC). The method is directed at detecting one or more mutations at one or more of the cleavage and/or binding sites for APC of Factor V and/or Factor Va or at Factor VIII and/or Factor VIIIa at either nucleic acid or protein level or both.

Procédé de dépistage d'une anomalie génétique associée à la trombose et/ou à une mauvaise réponse anticoagulante à la protéine C activée (APC). Le procédé vise à détecter une ou plusieurs mutations au niveau d'un ou de plusieurs des sites de clivage et/ou de liaison pour la protéine APC du facteur V et/ou du facteur Va ou au niveau du facteur VIII et/ou du facteur VIIIa, au niveau soit de l'acide nucléique soit de la protéine soit au deux.

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