Intriguing outcome of JAK2V617F mutation seen in a patient with MYH9-related hereditary macrothrombocytopenia.
Fabris
Fabrizio
F
Scandellari
Raffaella
R
Vettore
Silvia
S
Scapin
Margherita
M
Bizzaro
Nicola
N
Randi
Maria L
ML
D000368:Aged; D001012:Aorta, Abdominal / Q000000981:diagnostic imaging / Q000473:pathology; D048708:Cell Growth Processes / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006319:Hearing Loss, Sensorineural; D006801:Humans; D017379:Hypertrophy, Left Ventricular; D053614:Janus Kinase 2 / Q000235:genetics* / Q000378:metabolism; D020409:Molecular Motor Proteins / Q000235:genetics / Q000378:metabolism*; D009154:Mutation / Q000235:genetics; D009196:Myeloproliferative Disorders / Q000150:complications / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D018995:Myosin Heavy Chains / Q000235:genetics / Q000378:metabolism*; D011859:Radiography; D013921:Thrombocytopenia / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000151:congenital; D034061:Thrombopoiesis / Q000235:genetics; D013927:Thrombosis; D014463:Ultrasonography
C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; C507924:JAK2 protein, human; D053614:Janus Kinase 2; D018995:Myosin Heavy Chains