Genetic mechanisms of hereditary hemostasis disorders.
This review summarizes known human genes whose mutations are associated with inherited hemostasis defects. These genes are divided into three groups. The genes of the first group are responsible for platelet adhesion, activation, and aggregation. The genes of the second group control the biosynthesis of blood-clotting factors and cofactors. The genes of the third group are required for the functioning of proteins involved in the anticoagulant system and fibrinolysis.
Patrushev
L I
LI
Shemyakin and Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Sciences, ul. Miklukho-Maklaya 16/10, Moscow, 117997, Russia. patrush@mail.ibch.ru
D001792:Blood Platelets / Q000378:metabolism*; D002448:Cell Adhesion; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006402:Hematologic Diseases / Q000235:genetics*; D006487:Hemostasis / Q000502:physiology*; D006801:Humans; D009154:Mutation; D015539:Platelet Activation; D010974:Platelet Aggregation; D013577:Syndrome