Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients
大型歌舞伎综合征患者的分子分析、致病机制及通读疗法
期刊:Human Mutation
影响因子:3.3
doi:10.1002/humu.22547
Lucia Micale, Bartolomeo Augello, Claudia Maffeo, Angelo Selicorni, Federica Zucchetti, Carmela Fusco, Pasquelena De Nittis, Maria Teresa Pellico, Barbara Mandriani, Rita Fischetto, Loredana Boccone, Margherita Silengo, Elisa Biamino, Chiara Perria, Stefano Sotgiu, Gigliola Serra, Elisabetta Lapi, M
