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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Hum Genome Var
Asıl Yazarlar: Akagawa, Hiroyuki, Mukawa, Maki, Nariai, Tadashi, Nomura, Shunsuke, Aihara, Yasuo, Onda, Hideaki, Yoneyama, Taku, Kudo, Takumi, Sumita, Kazutaka, Maehara, Taketoshi, Kawamata, Takakazu, Kasuya, Hidetoshi
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2018
Konular:
Data Report
Online Erişim: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
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller