Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus
AHR基因的纯合终止突变会导致常染色体隐性遗传性黄斑发育不全和婴儿眼球震颤。
期刊:Brain
影响因子:11.7
doi:10.1093/brain/awz098
Mayer, Anja K; Mahajnah, Muhammad; Thomas, Mervyn G; Cohen, Yuval; Habib, Adib; Schulze, Martin; Maconachie, Gail D E; AlMoallem, Basamat; De Baere, Elfride; Lorenz, Birgit; Traboulsi, Elias I; Kohl, Susanne; Azem, Abdussalam; Bauer, Peter; Gottlob, Irene; Sharkia, Rajech; Wissinger, Bernd
