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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Publicat a:Neurol Genet
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Wolters Kluwer 2018
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Article
Accés en línia: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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