A novel TSC2 mutation in a Korean patient with tuberous sclerosis complex.
Department of Microbiology and Integrated Research Center for Genome Polymorphism, College of Medicine, Catholic University of Korea, Songeui Campus, 222 Banpo-daero, Seocho-gu, Seoul, 137-701, Republic of Korea.
Hae-Jin
HJ
Hu
Yeun-Jun
YJ
Chung
Han-Wook
HW
Yoo
Young-Hoon
YH
Kim
Tae-Hoon
TH
Eom
D004252:DNA Mutational Analysis; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000235:genetics*; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000235:genetics*; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics*
C000624653:TSC2 protein, human; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins