Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities

OBJECTIVE: To identify genes related to normal-pressure hydrocephalus (NPH) in one Japanese family with several members with NPH. METHODS: We performed whole-exome sequencing (WES) on a Japanese family with multiple individuals with NPH and identified a candidate gene. Then we generated knockout mou...

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Detalles Bibliográficos
Autores principales: Morimoto, Yoshiro, Yoshida, Shintaro, Kinoshita, Akira, Satoh, Chisei, Mishima, Hiroyuki, Yamaguchi, Naohiro, Matsuda, Katsuya, Sakaguchi, Miako, Tanaka, Takeshi, Komohara, Yoshihiro, Imamura, Akira, Ozawa, Hiroki, Nakashima, Masahiro, Kurotaki, Naohiro, Kishino, Tatsuya, Yoshiura, Koh-ichiro, Ono, Shinji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6598815/
https://www.ncbi.nlm.nih.gov/pubmed/31004071
http://dx.doi.org/10.1212/WNL.0000000000007505

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6598815/
https://www.ncbi.nlm.nih.gov/pubmed/31004071
http://dx.doi.org/10.1212/WNL.0000000000007505

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