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NRAS Mutations in Noonan Syndrome

Noonan syndrome is a genetically heterogeneous disorder caused by mutations in PTPN11, SOS1, RAF1 and less frequently in KRAS, NRAS or SHOC2. Here, we performed mutation analysis of NRAS and SHOC2 in 115 PTPN11, SOS1, RAF1, and KRAS mutation-negative individuals. No SHOC2 mutations were found, but w...

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Bibliographische Detailangaben
Hauptverfasser: Denayer, E., Peeters, H., Sevenants, L., Derbent, M., Fryns, J.P., Legius, E.
Format: Artigo
Sprache:Inglês
Veröffentlicht: S. Karger AG 2012
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3398822/
https://ncbi.nlm.nih.gov/pubmed/22855653
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000338467
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