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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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Detalhes bibliográficos
Main Authors: Denayer, E., Peeters, H., Sevenants, L., Derbent, M., Fryns, J.P., Legius, E.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2012
Assuntos:
Acesso em linha: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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