G2Cdb::Human Disease Report


Disease id D00000121
Name Chronic nonspherocytic haemolytic anaemia
Nervous system disease No
Genes
G00002481 (PRKCG) protein kinase C, gamma
Literature
(1 items)
human disease
Life-threatening nonspherocytic hemolytic anemia in a patient with a null mutation in the PKLR gene and no compensatory PKM gene expression.
Diez A, Gilsanz F, Martinez J, Pérez-Benavente S, Meza NW, Bautista JM
Blood. 2005;106;1851-6. PMID: 15870173 DOI: 10.1182/blood-2005-02-0555