A novel missense mutation in the GTPase activating       protein homology region of TSC2 in two large       families with tuberous sclerosis complex.
Khare
L
L
Strizheva
G D
GD
Bailey
J N
JN
Au
K S
KS
Northrup
H
H
Smith
M
M
Smalley
S L
SL
Henske
E P
EP
D001483:Base Sequence; D005091:Exons / Q000235:genetics; D020690:GTPase-Activating Proteins / Q000737:chemistry*; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D001523:Mental Disorders / Q000235:genetics / Q000503:physiopathology; D020125:Mutation, Missense / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D012097:Repressor Proteins / Q000737:chemistry* / Q000235:genetics*; D017385:Sequence Homology; D014402:Tuberous Sclerosis / Q000235:genetics* / Q000503:physiopathology; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins
D020690:GTPase-Activating Proteins; D012097:Repressor Proteins; C000624653:TSC2 protein, human; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins