| 24633898 |
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients
Micale, L,
Augello, B,
Maffeo, C,
Selicorni, A,
Zucchetti, F,
Fusco, C,
De Nittis, P,
Pellico, MT,
Mandriani, B,
Fischetto, R,
Boccone, L,
Silengo, M,
Biamino, E,
Perria, C,
Sotgiu, S,
Serra, G,
Lapi, E,
Neri, M,
Ferlini, A,
Cavaliere, ML,
Chiurazzi, P,
Monica, MD,
Scarano, G,
Faravelli, F,
Ferrari, P,
Mazzanti, L,
Pilotta, A,
Patricelli, MG,
Bedeschi, MF,
Benedicenti, F,
Prontera, P,
Toschi, B,
Salviati, L,
Melis, D,
Di Battista, E,
Vancini, A,
Garavelli, L,
Zelante, L,
Merla, G
|
Hum Mutat |
2014 |
![KMT2D M999Yfs*69 [nucleoplasm] icon](/icon/R-ICO-014610.svg){kind=icon}
