Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?
携带 R133C 突变的患者:他们的表型与其他携带其他突变的 Rett 综合征患者有何不同?
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg.40.5.e52
Leonard, H; Colvin, L; Christodoulou, J; Schiavello, T; Williamson, S; Davis, M; Ravine, D; Fyfe, S; de Klerk, N; Matsuishi, T; Kondo, I; Clarke, A; Hackwell, S; Yamashita, Y