A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.
AMPA 受体 GRIA3 离子传导孔中的点突变会导致睡眠模式严重紊乱以及智力障碍
期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddx270
Davies Benjamin, Brown Laurence A, Cais Ondrej, Watson Jake, Clayton Amber J, Chang Veronica T, Biggs Daniel, Preece Christopher, Hernandez-Pliego Polinka, Krohn Jon, Bhomra Amarjit, Twigg Stephen R F, Rimmer Andrew, Kanapin Alexander, Sen Arjune, Zaiwalla Zenobia, McVean Gil, Foster Russell, Donnelly Peter, Taylor Jenny C, Blair Edward, Nutt David, Aricescu A Radu, Greger Ingo H, Peirson Stuart N, Flint Jonathan, Martin Hilary C
