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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Neurol Genet
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Wolters Kluwer 2018
Gaiak:
Article
Sarrera elektronikoa: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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