20052757 |
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation
David, A,
Aoki, Y,
Kure, S,
Matsubara, Y,
Lapunzina, P,
Gillessen-Kaesbach, G,
Ohata, T,
Verloes, A,
Cavé, H,
Kurosawa, K,
Ando, T,
Nakagawa, N,
Narumi, Y,
Ohashi, H,
Takada, F,
Philip, N,
Mizuno, S,
Tsuchiya, S,
Sakazume, S,
Niihori, T,
Wieczorek, D,
Fujiwara, I,
Okamoto, N,
Kawame, H,
Kobayashi, T,
Meneses, AG,
Guliyeva, A
|
Hum. Mutat. |
2010 |
17603482 |
Germline gain-of-function mutations in RAF1 cause Noonan syndrome
Kamisago, M,
Nakagawa, M,
Hirota, H,
Muneuchi, J,
Matsushima, M,
Mizuno, K,
Momma, K,
Higashinakagawa, T,
Komoike, Y,
Fujiwara, Y,
Amo, R,
Furutani, M,
Razzaque, MA,
Nishizawa, T,
Yagi, H,
Katayama, H,
Tokuyama, M,
Matsuoka, R
|
Nat. Genet. |
2007 |