Novel integrin-dependent platelet malfunction in siblings with leukocyte adhesion deficiency-III (LAD-III) caused by a point mutation in FERMT3.

Jurk, Kerstin

Novel integrin-dependent platelet malfunction in siblings with leukocyte adhesion deficiency-III (LAD-III) caused by a point mutation in FERMT3. [electronic resource] - Thrombosis and haemostasis May 2010 - 1053-64 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

2567-689X

10.1160/TH09-10-0689 doi


Cell Adhesion--genetics
Cell Degranulation--genetics
Cells, Cultured
Child
Child, Preschool
Chimerism
Collagen--metabolism
GTPase-Activating Proteins--metabolism
Hematopoietic Stem Cell Transplantation
Hemorrhage
Humans
Leukocyte-Adhesion Deficiency Syndrome--blood
Leukocytes, Mononuclear--metabolism
Male
Membrane Proteins--genetics
Mutation--genetics
Neoplasm Proteins--genetics
Platelet Activation--genetics
Platelet Glycoprotein GPIIb-IIIa Complex--metabolism
Platelet Glycoprotein GPIb-IX Complex--metabolism
Thrombin--metabolism
Vascular Cell Adhesion Molecule-1--metabolism