Gene symbol: PANK2. Disease: Pantothenate kinase associated neurodegeneration (PKAN).
Wieczorek
S W
SW
Department of Human Genetics, Ruhr-University, Bochum, Germany. stefan.wieczorek@rub.de
Epplen
J T
JT
D019943:Amino Acid Substitution; D006801:Humans; D020125:Mutation, Missense; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000235:genetics*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*
D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase