Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy
智力障碍和儿童期起病癫痫患者的致病性拷贝数变异和SCN1A突变
期刊:BMC Medical Genetics
影响因子:
doi:10.1186/s12881-016-0294-2
Fry, Andrew E; Rees, Elliott; Thompson, Rose; Mantripragada, Kiran; Blake, Penny; Jones, Glyn; Morgan, Sian; Jose, Sian; Mugalaasi, Hood; Archer, Hayley; McCann, Emma; Clarke, Angus; Taylor, Clare; Davies, Sally; Gibbon, Frances; Te Water Naude, Johann; Hartley, Louise; Thomas, Gareth; White, Catharine; Natarajan, Jaya; Thomas, Rhys H; Drew, Cheney; Chung, Seo-Kyung; Rees, Mark I; Holmans, Peter; Owen, Michael J; Kirov, George; Pilz, Daniela T; Kerr, Michael P
