التفاصيل البيبلوغرافية
العنوان:
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy
المؤلفون:
Atsushi Takata , Mitsuko Nakashima , Hirotomo Saitsu , Takeshi Mizuguchi , Satomi Mitsuhashi , Yukitoshi Takahashi , Nobuhiko Okamoto , Hitoshi Osaka , Kazuyuki Nakamura , Jun Tohyama , Kazuhiro Haginoya , Saoko Takeshita , Ichiro Kuki , Tohru Okanishi , Tomohide Goto , Masayuki Sasaki , Yasunari Sakai , Noriko Miyake , Satoko Miyatake , Naomi Tsuchida , Kazuhiro Iwama , Gaku Minase , Futoshi Sekiguchi , Atsushi Fujita , Eri Imagawa , Eriko Koshimizu , Yuri Uchiyama , Kohei Hamanaka , Chihiro Ohba , Toshiyuki Itai , Hiromi Aoi , Ken Saida , Tomohiro Sakaguchi , Kouhei Den , Rina Takahashi , Hiroko Ikeda , Tokito Yamaguchi , Kazuki Tsukamoto , Shinsaku Yoshitomi , Taikan Oboshi , Katsumi Imai , Tomokazu Kimizu , Yu Kobayashi , Masaya Kubota , Hirofumi Kashii , Shimpei Baba , Mizue Iai , Ryutaro Kira , Munetsugu Hara , Masayasu Ohta , Yohane Miyata , Rie Miyata , Jun-ichi Takanashi , Jun Matsui , Kenji Yokochi , Masayuki Shimono , Masano Amamoto , Rumiko Takayama , Shinichi Hirabayashi , Kaori Aiba , Hiroshi Matsumoto , Shin Nabatame , Takashi Shiihara , Mitsuhiro Kato , Naomichi Matsumoto
المصدر:
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
بيانات النشر:
Nature Portfolio, 2019.
سنة النشر:
2019
المجموعة:
LCC:Science
مصطلحات موضوعية:
Science
الوصف:
Many causative genes are known for epileptic or developmental and epileptic encephalopathies (EE/DEE) yet a genetic diagnosis cannot be made for many patients. Here, the authors analyse whole exome sequencing data from a Japanese case−control cohort to identify common, rare and ultra-rare coding variants associated with EE/DEE.
نوع الوثيقة:
article
وصف الملف:
electronic resource
اللغة:
English
تدمد:
2041-1723
Relation:
https://doaj.org/toc/2041-1723
DOI:
10.1038/s41467-019-10482-9
URL الوصول:
https://doaj.org/article/16a9920cc8234e80bb6236676c9ac817
رقم الأكسشن:
edsdoj.16a9920cc8234e80bb6236676c9ac817
قاعدة البيانات:
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