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Gain-of-function mutations in the protein tyrosine phosphatase Ptpn11 (SHP2) induce hydrocephalus in a catalytically-dependent manner
Catalytically activating mutations in Ptpn11, which encodes the protein tyrosine phosphatase SHP2, cause 50% of Noonan Syndrome (NS) cases, whereas inactivating mutations in Ptpn11 are responsible for nearly all cases of the similar, but distinct, developmental disorder Noonan Syndrome with Multiple...
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| 出版年: | Sci Signal |
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| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2018
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5915342/ https://ncbi.nlm.nih.gov/pubmed/29559584 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scisignal.aao1591 |
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