High levels of brain-type creatine kinase activity in human platelets and leukocytes: A genetic anomaly with autosomal dominant inheritance

The ectopic expression in peripheral blood cells of the brain-type creatine kinase (CKB) is an autosomal dominant inherited anomaly named CKBE (MIM ID 123270). Here, we characterized the CK activity in serum, platelets (PLT) and leukocytes (WBC) of 22 probands (from 8 unrelated families) and 10 cont...

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Veröffentlicht in:	Blood cells, molecules, & diseases molecules, & diseases, 2012-01, Vol.48 (1), p.62-67
Hauptverfasser:	Arnold, Heidwolf, Wienker, Thomas F., Hoffmann, Michael M., Scheuerbrandt, Günter, Kemp, Katharina, Bugert, Peter
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Blood Platelets - cytology Blood Platelets - enzymology Blotting, Western Bone Marrow - metabolism Brain - enzymology Case-Control Studies Choristoma - genetics Choristoma - metabolism CKB gene expression Creatine kinase Creatine Kinase, BB Form - genetics Creatine Kinase, BB Form - metabolism Ectopic expression Female Gene Expression Regulation, Enzymologic Genes, Dominant Genetic Diseases, Inborn - enzymology Germany Humans Isoenzymes - genetics Isoenzymes - metabolism Leukocytes - cytology Leukocytes - enzymology Male Middle Aged Pedigree Platelets Real-Time Polymerase Chain Reaction RNA, Messenger
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