Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay.
Falco
Michele
M
Laboratorio di Diagnosi Genetica, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Oasi Maria SS, Troina, Italy.
Romano
Corrado
C
Alberti
Antonino
A
Greco
Donatella
D
Scuderi
Carmela
C
Avola
Emanuela
E
Failla
Pinella
P
Belli
Serena
S
Tolmie
John L
JL
Amata
Silvestra
S
Fichera
Marco
M
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