Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation.
编码衔接蛋白 1 复合物 Sigma 2 亚基的基因 AP1S2 发生突变,会导致 X 连锁智力低下
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1086/510137
Tarpey Patrick S, Stevens Claire, Teague Jon, Edkins Sarah, O'Meara Sarah, Avis Tim, Barthorpe Syd, Buck Gemma, Butler Adam, Cole Jennifer, Dicks Ed, Gray Kristian, Halliday Kelly, Harrison Rachel, Hills Katy, Hinton Jonathon, Jones David, Menzies Andrew, Mironenko Tatiana, Perry Janet, Raine Keiran, Richardson David, Shepherd Rebecca, Small Alexandra, Tofts Calli, Varian Jennifer, West Sofie, Widaa Sara, Yates Andy, Catford Rachael, Butler Julia, Mallya Uma, Moon Jenny, Luo Ying, Dorkins Huw, Thompson Deborah, Easton Douglas F, Wooster Richard, Bobrow Martin, Carpenter Nancy, Simensen Richard J, Schwartz Charles E, Stevenson Roger E, Turner Gillian, Partington Michael, Gecz Jozef, Stratton Michael R, Futreal P Andrew, Raymond F Lucy