title: Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis.
authors.affiliation: Laboratory for Medical Genetics, Lochhamer Str. 29, 82152 Martinsried, Germany. mayer@medizinische-genetik.de
authors.forename: K
authors.initials: K
authors.lastname: Mayer
authors.forename: M
authors.initials: M
authors.lastname: Goedbloed
authors.forename: K
authors.initials: K
authors.lastname: van Zijl
authors.forename: M
authors.initials: M
authors.lastname: Nellist
authors.forename: H-D
authors.initials: HD
authors.lastname: Rott
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D017124:Conserved Sequence; D004252:DNA Mutational Analysis; D005260:Female; D020690:GTPase-Activating Proteins / Q000737:chemistry; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D017434:Protein Structure, Tertiary; D011506:Proteins / Q000378:metabolism; D012097:Repressor Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D019893:Ribosomal Protein S6 Kinases / Q000378:metabolism; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins
chemical_list: D020690:GTPase-Activating Proteins; D011506:Proteins; D012097:Repressor Proteins; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; D019893:Ribosomal Protein S6 Kinases