A novel mutation in a patient with pantothenate kinase-associated neurodegeneration.
Saleheen
Danish
D
Nazir
Aisha
A
Khanum
Shaheen
S
Haider
Shajjia Razi
SR
Frossard
Philippe
P
D000293:Adolescent; D000368:Aged; D001479:Basal Ganglia / Q000737:chemistry; D004252:DNA Mutational Analysis; D005260:Female; D020271:Heredodegenerative Disorders, Nervous System / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*
D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase