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PTPN11-Associated Mutations in the Heart: Has LEOPARD changed its RASpots?
In this review, we focus on elucidating the cardiac function of germline mutations in the PTPN11 gene, encoding the SH2 domain-containing protein tyrosine phosphatase SHP2. PTPN11 mutations cause LEOPARD Syndrome (LS) and Noonan Syndrome (NS), two disorders that are part of a newly classified family...
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| Asıl Yazarlar: | , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2011
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3372917/ https://ncbi.nlm.nih.gov/pubmed/22681964 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.tcm.2012.03.006 |
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