Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

Whole-exome sequencing of 13 individuals with developmental delay commonly accompanied by abnormal muscle tone and seizures identified de novo missense mutations enriched within a sub-region of GNB1, a gene encoding the guanine nucleotide-binding protein subunit beta-1, Gβ. These 13 individuals were...

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Argitaratua izan da:Am J Hum Genet
Egile Nagusiak: Petrovski, Slavé, Küry, Sébastien, Myers, Candace T., Anyane-Yeboa, Kwame, Cogné, Benjamin, Bialer, Martin, Xia, Fan, Hemati, Parisa, Riviello, James, Mehaffey, Michele, Besnard, Thomas, Becraft, Emily, Wadley, Alexandrea, Politi, Anya Revah, Colombo, Sophie, Zhu, Xiaolin, Ren, Zhong, Andrews, Ian, Dudding-Byth, Tracy, Schneider, Amy L., Wallace, Geoffrey, Rosen, Aaron B.I., Schelley, Susan, Enns, Gregory M., Corre, Pierre, Dalton, Joline, Mercier, Sandra, Latypova, Xénia, Schmitt, Sébastien, Guzman, Edwin, Moore, Christine, Bier, Louise, Heinzen, Erin L., Karachunski, Peter, Shur, Natasha, Grebe, Theresa, Basinger, Alice, Nguyen, Joanne M., Bézieau, Stéphane, Wierenga, Klaas, Bernstein, Jonathan A., Scheffer, Ingrid E., Rosenfeld, Jill A., Mefford, Heather C., Isidor, Bertrand, Goldstein, David B.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2016
Gaiak:
Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4863562/
https://ncbi.nlm.nih.gov/pubmed/27108799
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.03.011
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