G2Cdb::Human Disease report

Disease id
D00000122
Name
Pyruvate kinase deficiency
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00002481 PRKCG
protein kinase C, gamma
Y (15870493) Unknown (?) Y

References

  • A novel homozygous mutation of PKLR gene in a pyruvate-kinase-deficient Korean family.

    Park-Hah JO, Kanno H, Kim WD and Fujii H

    Department of Pediatrics, Yeungnam University College of Medicine, Daegu, Korea. johah@med.yu.ac.kr

    Acta haematologica 2005;113;3;208-11

Literature (1)

Pubmed - human_disease

  • A novel homozygous mutation of PKLR gene in a pyruvate-kinase-deficient Korean family.

    Park-Hah JO, Kanno H, Kim WD and Fujii H

    Department of Pediatrics, Yeungnam University College of Medicine, Daegu, Korea. johah@med.yu.ac.kr

    Acta haematologica 2005;113;3;208-11

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

Cookies Policy | Terms and Conditions. This site is hosted by Edinburgh University and the Genes to Cognition Programme.