Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features
编码溶血磷脂酰肌醇酰基转移酶 I 的 MBOAT7 基因突变会导致智力障碍,并伴有癫痫和自闭症特征。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2016.07.019
Johansen, Anide; Rosti, Rasim O; Musaev, Damir; Sticca, Evan; Harripaul, Ricardo; Zaki, Maha; Çağlayan, Ahmet Okay; Azam, Matloob; Sultan, Tipu; Froukh, Tawfiq; Reis, André; Popp, Bernt; Ahmed, Iltaf; John, Peter; Ayub, Muhammad; Ben-Omran, Tawfeg; Vincent, John B; Gleeson, Joseph G; Abou Jamra, Rami