Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome

OBJECTIVE: To determine whether the GNAQ R183Q mutation is present in the forme fruste cases of Sturge-Weber syndrome (SWS) to establish a definitive molecular diagnosis. METHODS: We used sensitive droplet digital PCR (ddPCR) to detect and quantify the GNAQ mutation in tissues from epilepsy surgery...

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Publicado no:Neurol Genet
Main Authors: Hildebrand, Michael S., Harvey, A. Simon, Malone, Stephen, Damiano, John A., Do, Hongdo, Ye, Zimeng, McQuillan, Lara, Maixner, Wirginia, Kalnins, Renate, Nolan, Bernadette, Wood, Martin, Ozturk, Ezgi, Jones, Nigel C., Gillies, Greta, Pope, Kate, Lockhart, Paul J., Dobrovic, Alexander, Leventer, Richard J., Scheffer, Ingrid E., Berkovic, Samuel F.
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5931068/
https://ncbi.nlm.nih.gov/pubmed/29725622
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000236
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