Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome

✍ Scribed by Valayannopoulos, Vassili; Bakouh, Naziha; Mazzuca, Michel; Nonnenmacher, Luc; Hubert, Laurence; Makaci, Fatna-Léa; Chabli, Allel; Salomons, Gajja S.; Mellot-Draznieks, Caroline; Brulé, Emilie; Lonlay, Pascale; Toulhoat, Hervé; Munnich, Arnold; Planelles, Gabrielle; Keyzer, Yves

• Book ID: 118796588
• Publisher: Springer
• Year: 2012
• Tongue: English
• Weight: 704 KB
• Volume: 36
• Category: Article
• ISSN: 0141-8955
• DOI: 10.1007/s10545-012-9495-9