A novel splice site mutation (156 + 1G-->A) in the TSC2 gene.
Kumar
A
A
Division of Neurology, Duke University Medical Center, Durham, North Carolina 27710, USA.
Kandt
R S
RS
Wolpert
C
C
Roses
A D
AD
Pericak-Vance
M A
MA
Gilbert
J R
JR
D000328:Adult; D006801:Humans; D008297:Male; D009154:Mutation; D012326:RNA Splicing; D012097:Repressor Proteins / Q000235:genetics*; D014402:Tuberous Sclerosis / Q000235:genetics*; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins
D012097:Repressor Proteins; C000624653:TSC2 protein, human; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins