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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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發表在:Hum Genome Var
Main Authors: Akagawa, Hiroyuki, Mukawa, Maki, Nariai, Tadashi, Nomura, Shunsuke, Aihara, Yasuo, Onda, Hideaki, Yoneyama, Taku, Kudo, Takumi, Sumita, Kazutaka, Maehara, Taketoshi, Kawamata, Takakazu, Kasuya, Hidetoshi
格式: Artigo
語言:Inglês
出版: Nature Publishing Group 2018
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在線閱讀: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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