Novel and recurrent RNF213 variants in Japanese pediatric patients with moyamoya disease

Moyamoya disease is a progressive steno-occlusive condition of the main intracranial arteries that results in the compensatory formation of fragile moyamoya vessels at the base of the brain. RNF213 is the most significant susceptibility gene and is often found with the p.Arg4810Lys founder variant i...

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Библиографические подробности
Опубликовано в: :Hum Genome Var
Главные авторы: Akagawa, Hiroyuki, Mukawa, Maki, Nariai, Tadashi, Nomura, Shunsuke, Aihara, Yasuo, Onda, Hideaki, Yoneyama, Taku, Kudo, Takumi, Sumita, Kazutaka, Maehara, Taketoshi, Kawamata, Takakazu, Kasuya, Hidetoshi
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group 2018
Предметы:
Data Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5784207/
https://ncbi.nlm.nih.gov/pubmed/29387438
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.60
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