title: Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome.
authors.forename: I
authors.initials: I
authors.lastname: Coupry
authors.forename: C
authors.initials: C
authors.lastname: Roudaut
authors.forename: M
authors.initials: M
authors.lastname: Stef
authors.forename: M-A
authors.initials: MA
authors.lastname: Delrue
authors.forename: M
authors.initials: M
authors.lastname: Marche
authors.forename: I
authors.initials: I
authors.lastname: Burgelin
authors.forename: L
authors.initials: L
authors.lastname: Taine
authors.forename: C
authors.initials: C
authors.lastname: Cruaud
authors.forename: D
authors.initials: D
authors.lastname: Lacombe
authors.forename: B
authors.initials: B
authors.lastname: Arveiler
mesh_terms: D001483:Base Sequence; D015152:Blotting, Northern; D015139:Blotting, Southern; D050882:CREB-Binding Protein; D002869:Chromosome Aberrations; D002885:Chromosomes, Human, Pair 16; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000032:analysis; D012415:Rubinstein-Taybi Syndrome / Q000175:diagnosis / Q000235:genetics*; D017384:Sequence Deletion; D015534:Trans-Activators / Q000235:genetics*
chemical_list: D009687:Nuclear Proteins; D012333:RNA, Messenger; D015534:Trans-Activators; D050882:CREB-Binding Protein; C494363:CREBBP protein, human