Whole Exome Sequencing in a Series of Patients with a Clinical Diagnosis of Tuberous Sclerosis Not Confirmed by Targeted TSC1/TSC2 Sequencing
对一系列临床诊断为结节性硬化症但未通过靶向 TSC1/TSC2 测序确诊的患者进行全外显子组测序
期刊:Genes
影响因子:2.8
doi:10.3390/genes12091401
Kovesdi, Erzsebet; Ripszam, Reka; Postyeni, Etelka; Horvath, Emese Beatrix; Kelemen, Anna; Fabos, Beata; Farkas, Viktor; Hadzsiev, Kinga; Sumegi, Katalin; Magyari, Lili; Moreno, Pilar Guatibonza; Bauer, Peter; Melegh, Bela