title: Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay.
authors.affiliation: Laboratorio di Diagnosi Genetica, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Oasi Maria SS, Troina, Italy.
authors.forename: Michele
authors.initials: M
authors.lastname: Falco
authors.forename: Corrado
authors.initials: C
authors.lastname: Romano
authors.forename: Antonino
authors.initials: A
authors.lastname: Alberti
authors.forename: Donatella
authors.initials: D
authors.lastname: Greco
authors.forename: Carmela
authors.initials: C
authors.lastname: Scuderi
authors.forename: Emanuela
authors.initials: E
authors.lastname: Avola
authors.forename: Pinella
authors.initials: P
authors.lastname: Failla
authors.forename: Serena
authors.initials: S
authors.lastname: Belli
authors.forename: John L
authors.initials: JL
authors.lastname: Tolmie
authors.forename: Silvestra
authors.initials: S
authors.lastname: Amata
authors.forename: Marco
authors.initials: M
authors.lastname: Fichera
mesh_terms: D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D038921:Coffin-Lowry Syndrome / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009691:Nucleic Acid Denaturation