Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa
附录。CC2D2A 基因编码一种卷曲螺旋和 C2 结构域蛋白,会导致常染色体隐性遗传的智力低下伴视网膜色素变性。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2008.10.005
Noor, Abdul; Windpassinger, Christian; Patel, Megha; Stachowiak, Beata; Mikhailov, Anna; Azam, Matloob; Irfan, Muhammad; Paterson, Andrew D; Lutufullah, Muhammad; Doherty, Dan; Vincent, John B; Ayub, Muhammad