Novel mutation in PANK2 associated with retinal telangiectasis.
Sohn
Elliott H
EH
Michaelides
Michel
M
Bird
Alan C
AC
Roberts
Clare J
CJ
Moore
Anthony T
AT
Smyth
Diane
D
Brady
Angela F
AF
Hungerford
John L
JL
D000293:Adolescent; D002648:Child; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000235:genetics*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D058456:Retinal Telangiectasis / Q000235:genetics*
D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase