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Missense mutations in the NF2 gene result in the quantitative loss of merlin protein and minimally affect protein intrinsic function

Neurofibromatosis type 2 (NF2) is a multiple neoplasia syndrome and is caused by a mutation of the NF2 tumor suppressor gene that encodes for the tumor suppressor protein merlin. Biallelic NF2 gene inactivation results in the development of central nervous system tumors, including schwannomas, menin...

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Hlavní autoři: Yang, Chunzhang, Asthagiri, Ashok R., Iyer, Rajiv R., Lu, Jie, Xu, David S., Ksendzovsky, Alexander, Brady, Roscoe O., Zhuang, Zhengping, Lonser, Russell R.
Médium: Artigo
Jazyk:Inglês
Vydáno: National Academy of Sciences 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3064390/
https://ncbi.nlm.nih.gov/pubmed/21383154
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1102198108
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