title: A novel missense mutation in the GTPase activating       protein homology region of TSC2 in two large       families with tuberous sclerosis complex.
authors.forename: L
authors.initials: L
authors.lastname: Khare
authors.forename: G D
authors.initials: GD
authors.lastname: Strizheva
authors.forename: J N
authors.initials: JN
authors.lastname: Bailey
authors.forename: K S
authors.initials: KS
authors.lastname: Au
authors.forename: H
authors.initials: H
authors.lastname: Northrup
authors.forename: M
authors.initials: M
authors.lastname: Smith
authors.forename: S L
authors.initials: SL
authors.lastname: Smalley
authors.forename: E P
authors.initials: EP
authors.lastname: Henske
mesh_terms: 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
chemical_list: D020690:GTPase-Activating Proteins; D012097:Repressor Proteins; C000624653:TSC2 protein, human; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins