Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability
α1,2-甘露糖苷酶基因MAN1B1的突变会导致常染色体隐性遗传性智力障碍。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2011.06.006
Rafiq, Muhammad Arshad; Kuss, Andreas W; Puettmann, Lucia; Noor, Abdul; Ramiah, Annapoorani; Ali, Ghazanfar; Hu, Hao; Kerio, Nadir Ali; Xiang, Yong; Garshasbi, Masoud; Khan, Muzammil Ahmad; Ishak, Gisele E; Weksberg, Rosanna; Ullmann, Reinhard; Tzschach, Andreas; Kahrizi, Kimia; Mahmood, Khalid; Naeem, Farooq; Ayub, Muhammad; Moremen, Kelley W; Vincent, John B; Ropers, Hans Hilger; Ansar, Muhammad; Najmabadi, Hossein