A novel TSC2 mutation in a Chinese family with tuberous sclerosis complex.
Department of Medical Genetics, College of Basic Medical Science, Third Military Medical University, Chongqing 400038, People's Republic of China. guohong02@gmail.com.
Zheng
Z
Yu
Xin
X
Zhang
Hong
H
Guo
Yun
Y
Bai
D000328:Adult; D044466:Asian People / Q000235:genetics*; D001921:Brain / Q000473:pathology; D002681:China; D004252:DNA Mutational Analysis; D005190:Family; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D014057:Tomography, X-Ray Computed; 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