Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome.
| Autor: | Aoki, Yoko1 aokiy@med.tohoku.ac.jp, Niihori, Tetsuya1, Banjo, Toshihiro2, Okamoto, Nobuhiko3, Mizuno, Seiji4, Kurosawa, Kenji5, Ogata, Tsutomu6, Takada, Fumio7, Yano, Michihiro8, Ando, Toru9, Hoshika, Tadataka10, Barnett, Christopher11,12, Ohashi, Hirofumi13, Kawame, Hiroshi14, Hasegawa, Tomonobu15, Okutani, Takahiro16, Nagashima, Tatsuo17, Hasegawa, Satoshi18, Funayama, Ryo19, Nagashima, Takeshi19 |
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| Zdroj: | American Journal of Human Genetics. Jul2013, Vol. 93 Issue 1, p173-180. 8p. |
| Databáze: | Academic Search Ultimate |
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