Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta
编码 RER 蛋白 FKBP65 的基因突变会导致常染色体隐性遗传性成骨不全症。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2010.02.022
Alanay, Yasemin; Avaygan, Hrispima; Camacho, Natalia; Utine, G Eda; Boduroglu, Koray; Aktas, Dilek; Alikasifoglu, Mehmet; Tuncbilek, Ergul; Orhan, Diclehan; Bakar, Filiz Tiker; Zabel, Bernard; Superti-Furga, Andrea; Bruckner-Tuderman, Leena; Curry, Cindy J R; Pyott, Shawna; Byers, Peter H; Eyre, David R; Baldridge, Dustin; Lee, Brendan; Merrill, Amy E; Davis, Elaine C; Cohn, Daniel H; Akarsu, Nurten; Krakow, Deborah