De Novo Mutations in GNAO1, Encoding a Gα(o) Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

Heterotrimeric G proteins, composed of α, β, and γ subunits, can transduce a variety of signals from seven-transmembrane-type receptors to intracellular effectors. By whole-exome sequencing and subsequent mutation screening, we identified de novo heterozygous mutations in GNAO1, which encodes a Gα(o...

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Detalhes bibliográficos
Principais autores: Nakamura, Kazuyuki, Kodera, Hirofumi, Akita, Tenpei, Shiina, Masaaki, Kato, Mitsuhiro, Hoshino, Hideki, Terashima, Hiroshi, Osaka, Hitoshi, Nakamura, Shinichi, Tohyama, Jun, Kumada, Tatsuro, Furukawa, Tomonori, Iwata, Satomi, Shiihara, Takashi, Kubota, Masaya, Miyatake, Satoko, Koshimizu, Eriko, Nishiyama, Kiyomi, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Hayasaka, Kiyoshi, Ogata, Kazuhiro, Fukuda, Atsuo, Matsumoto, Naomichi, Saitsu, Hirotomo
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3769919/
https://ncbi.nlm.nih.gov/pubmed/23993195
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.07.014
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