Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis

OBJECTIVE: To identify mutations in vacuolar protein sorting 13A (VPS13A) for Japanese patients with suspected chorea-acanthocytosis (ChAc). METHODS: We performed a comprehensive mutation screen, including sequencing and copy number variation (CNV) analysis of the VPS13A gene, and chorein Western bl...

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Detalles Bibliográficos
Autores principales: Nishida, Yoshiaki, Nakamura, Masayuki, Urata, Yuka, Kasamo, Kei, Hiwatashi, Hanae, Yokoyama, Izumi, Mizobuchi, Masahiro, Sakurai, Kotaro, Osaki, Yasushi, Morita, Yukari, Watanabe, Masako, Yoshida, Kenji, Yamane, Kiyomi, Miyakoshi, Natsuki, Okiyama, Ryouichi, Ueda, Takehiro, Wakasugi, Noritaka, Saitoh, Yuji, Sakamoto, Takashi, Takahashi, Yuji, Shibano, Ken, Tokuoka, Hideki, Hara, Atsushi, Monma, Kazunari, Ogata, Katsuhisa, Kakuda, Keita, Mochizuki, Hideki, Arai, Takeo, Araki, Manabu, Fujii, Takeshi, Tsukita, Kazuto, Sakamaki-Tsukita, Haruhi, Sano, Akira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6515943/
https://www.ncbi.nlm.nih.gov/pubmed/31192303
http://dx.doi.org/10.1212/NXG.0000000000000332

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6515943/
https://www.ncbi.nlm.nih.gov/pubmed/31192303
http://dx.doi.org/10.1212/NXG.0000000000000332

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