Molecular and clinical analysis ofRAF1in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation-Reference-Cited by-同舟云学术

Molecular and clinical analysis ofRAF1in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

Published:2010-03 Issue:3 Volume:31 Page:284-294
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Kobayashi Tomoko,Aoki Yoko,Niihori Tetsuya,Cavé Hélène,Verloes Alain,Okamoto Nobuhiko,Kawame Hiroshi,Fujiwara Ikuma,Takada Fumio,Ohata Takako,Sakazume Satoru,Ando Tatsuya,Nakagawa Noriko,Lapunzina Pablo,Meneses Antonio G.,Gillessen-Kaesbach Gabriele,Wieczorek Dagmar,Kurosawa Kenji,Mizuno Seiji,Ohashi Hirofumi,David Albert,Philip Nicole,Guliyeva Afag,Narumi Yoko,Kure Shigeo,Tsuchiya Shigeru,Matsubara Yoichi

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21187/fullpdf

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4. Stops along the RAS pathway in human genetic disease;Bentires-Alj;Nat Med,2006

5. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype;Brems;Nat Genet,2007

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