Novel human pathological mutations. Gene symbol: EPM2A. Disease: Lafora progressive myoclonus epilepsy.
Trujillo-Tiebas
M J
MJ
Departamento Genética, F.J.D.-CAPIO, Madrid, Spain. mjtrujillo@fjd.es
Fenollar-Cortés
M
M
Gómez-Garré
P
P
Lorda-Sánchez
I
I
Serratosa
J M
JM
Ayuso García
C
C
D006801:Humans; D020192:Lafora Disease / Q000235:genetics*; D009154:Mutation; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor
D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C114990:EPM2A protein, human