The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis

✍ Scribed by Georgiou, Theodoros; Christopoulos, George; Anastasiadou, Violetta; Hadjiloizou, Stavros; Cregeen, David; Jackson, Marie; Mavrikiou, Gavriella; Kleanthous, Marina; Drousiotou, Anthi

• Book ID: 121961984
• Publisher: Elsevier
• Year: 2014
• Tongue: English
• Weight: 213 KB
• Volume: 2
• Category: Article
• ISSN: 2214-5400
• DOI: 10.1016/j.mgene.2014.01.007