A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma

COL4A1-related disorders are characterized by a higher incidence of cerebral hemorrhage than other hereditary cerebral small vessel diseases. Accumulating data have shown broad phenotypic variations, and extracerebral hemorrhages have been linked to these disorders. Moreover, the coexistence of neur...

詳細記述

保存先:
書誌詳細
出版年:Hum Genome Var
主要な著者: Muto, Kohei, Miyamoto, Ryosuke, Terasawa, Yuka, Shimatani, Yoshimitsu, Hara, Keijiro, Kakimoto, Takumi, Fukumoto, Tatsuya, Osaki, Yusuke, Fujita, Koji, Harada, Masafumi, Uehara, Hisanori, Takagi, Yasushi, Izumi, Yuishin
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group UK 2021
主題:
Data Report
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC8121905/
https://ncbi.nlm.nih.gov/pubmed/33990551
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-021-00150-0
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