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Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.
Philippa B Mills, Robert A H Surtees, Michael P Champion, Clare E Beesley, Neil Dalton, Peter J Scambler, Simon J R Heales, Anthony Briddon, Irene Scheimberg, Georg F Hoffmann, Johannes Zschocke, Peter T Clayton
Human Molecular Genetics 2005; 14(8):1077-1086
ICID: 716241
IC™ Value: 17.80
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