title: A novel splice site mutation (156 + 1G-->A) in the TSC2 gene.
authors.affiliation: Division of Neurology, Duke University Medical Center, Durham, North Carolina 27710, USA.
authors.forename: A
authors.initials: A
authors.lastname: Kumar
authors.forename: R S
authors.initials: RS
authors.lastname: Kandt
authors.forename: C
authors.initials: C
authors.lastname: Wolpert
authors.forename: A D
authors.initials: AD
authors.lastname: Roses
authors.forename: M A
authors.initials: MA
authors.lastname: Pericak-Vance
authors.forename: J R
authors.initials: JR
authors.lastname: Gilbert
mesh_terms: 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
chemical_list: D012097:Repressor Proteins; C000624653:TSC2 protein, human; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins