Severe Clinical Course in a Patient with Congenital Amegakaryocytic Thrombocytopenia Due to a Missense Mutation of the c-MPL Gene

Severe Clinical Course in a Patient with Congenital Amegakaryocytic Thrombocytopenia Due to a Missense Mutation of the c-MPL Gene

Congenital amegakaryocytic thrombocytopenia (CAMT) generally begins at birth with severe thrombocytopenia and progresses to pancytopenia. It is caused by mutations in the thrombopoietin receptor gene, the myeloproliferative leukemia virus oncogene (c-MPL). The association between CAMT and c-MPL muta...

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Bibliographic Details
Main Authors: İkbal Ok Bozkaya, Neşe Yaralı, Pamir Işık, Rukiye Ünsal Saç, Betül Tavil, Bahattin Tunç
Format: Article
Language:English
Published: Galenos Publishing House 2015-05-01
Series:Turkish Journal of Hematology
Subjects:
congenital amegakaryocytic thrombocytopenia
thrombopoietin
c-mpl
homozygous missense mutation
c-mpl tryp154arg
amino acid change
Online Access:https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&un=TJH-22220

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