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GENATLAS PHENOTYPE

last update : 17/09/2008

Symbol	PYKH
Location	1q22
Name	high red cell ATP syndrome with pyruvate kinase hyperactivity
Other name(s)	adenosine triphosphate, elevated, of erythrocytes
Corresponding gene	PKLR
Main clinical features	hereditary increase of red blood cell ATP caused by a specific mutation in the gene for red cell pyruvate kinase
Genetic determination	autosomal dominant
Function/system disorder	hematology
Type	disease

Remark(s)