Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification
JAM2双等位基因变异导致早发性隐性原发性家族性脑钙化
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2020.02.007
Schottlaender, Lucia V; Abeti, Rosella; Jaunmuktane, Zane; Macmillan, Carol; Chelban, Viorica; O'Callaghan, Benjamin; McKinley, John; Maroofian, Reza; Efthymiou, Stephanie; Athanasiou-Fragkouli, Alkyoni; Forbes, Raeburn; Soutar, Marc P M; Livingston, John H; Kalmar, Bernardett; Swayne, Orlando; Hotton, Gary; Pittman, Alan; Mendes de Oliveira, João Ricardo; de Grandis, Maria; Richard-Loendt, Angela; Launchbury, Francesca; Althonayan, Juri; McDonnell, Gavin; Carr, Aisling; Khan, Suliman; Beetz, Christian; Bisgin, Atil; Tug Bozdogan, Sevcan; Begtrup, Amber; Torti, Erin; Greensmith, Linda; Giunti, Paola; Morrison, Patrick J; Brandner, Sebastian; Aurrand-Lions, Michel; Houlden, Henry
