Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement
编码纤毛蛋白的 C8orf37 基因突变与早期黄斑受累的常染色体隐性视网膜营养不良有关
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2011.11.015
Alejandro Estrada-Cuzcano, Kornelia Neveling, Susanne Kohl, Eyal Banin, Ygal Rotenstreich, Dror Sharon, Tzipora C Falik-Zaccai, Stephanie Hipp, Ronald Roepman, Bernd Wissinger, Stef J F Letteboer, Dorus A Mans, Ellen A W Blokland, Michael P Kwint, Sabine J Gijsen, Ramon A C van Huet, Rob W J Collin,