Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth

The RASA1 gene encodes p120RASGAP, a multidomain cytoplasmic protein that acts as a negative regulator of the RAS signalling pathway. Heterozygous loss-of-function RASA1 mutations were identified in patients with Parkes Weber syndrome and multifocal capillary malformations. This syndrome is characte...

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Bibliografische gegevens
Hoofdauteurs: Revencu, N., Boon, L.M., Dompmartin, A., Rieu, P., Busch, W.L., Dubois, J., Forzano, F., van Hagen, J.M., Halbach, S., Kuechler, A., Lachmeijer, A.M.A., Lähde, J., Russell, L., Simola, K.O.J., Mulliken, J.B., Vikkula, M.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: S. Karger AG 2013
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Original Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3666457/
https://ncbi.nlm.nih.gov/pubmed/23801933
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000349919
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