title: Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation.
authors.forename: Moira
authors.initials: M
authors.lastname: Blyth
authors.forename: Michela
authors.initials: M
authors.lastname: Raponi
authors.forename: Rebecca
authors.initials: R
authors.lastname: Treacy
authors.forename: F Lucy
authors.initials: FL
authors.lastname: Raymond
authors.forename: John R W
authors.initials: JR
authors.lastname: Yates
authors.forename: Diana
authors.initials: D
authors.lastname: Baralle
mesh_terms: D000483:Alleles; D002648:Child; D002675:Child, Preschool; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D016254:Mutagenesis, Insertional / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D022821:RNA Splice Sites / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000235:genetics*; D000077004:Tuberous Sclerosis Complex 1 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D003062:Codon; D022821:RNA Splice Sites; C000624650:TSC1 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D025521:Tumor Suppressor Proteins