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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Bibliografische gegevens
Gepubliceerd in:Hum Genome Var
Hoofdauteurs: Akagawa, Hiroyuki, Mukawa, Maki, Nariai, Tadashi, Nomura, Shunsuke, Aihara, Yasuo, Onda, Hideaki, Yoneyama, Taku, Kudo, Takumi, Sumita, Kazutaka, Maehara, Taketoshi, Kawamata, Takakazu, Kasuya, Hidetoshi
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2018
Onderwerpen:
Data Report
Online toegang: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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