Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.
对三名无关受试者进行基于芯片的基因发现表明,SCARB2/LIMP-2 缺陷会导致肌阵挛性癫痫和肾小球硬化
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2007.12.019
Berkovic Samuel F, Dibbens Leanne M, Oshlack Alicia, Silver Jeremy D, Katerelos Marina, Vears Danya F, Lüllmann-Rauch Renate, Blanz Judith, Zhang Ke Wei, Stankovich Jim, Kalnins Renate M, Dowling John P, Andermann Eva, Andermann Frederick, Faldini Enrico, D'Hooge Rudi, Vadlamudi Lata, Macdonell Richard A, Hodgson Bree L, Bayly Marta A, Savige Judy, Mulley John C, Smyth Gordon K, Power David A, Saftig Paul, Bahlo Melanie