Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein

OBJECTIVE: To identify XK pathologic mutations in 6 patients with suspected McLeod syndrome (MLS) and a possible interaction between the chorea-acanthocytosis (ChAc)- and MLS-responsible proteins: chorein and XK protein. METHODS: Erythrocyte membrane proteins from patients with suspected MLS and pat...

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Publicado no:Neurol Genet
Main Authors: Urata, Yuka, Nakamura, Masayuki, Sasaki, Natsuki, Shiokawa, Nari, Nishida, Yoshiaki, Arai, Kaoru, Hiwatashi, Hanae, Yokoyama, Izumi, Narumi, Shinsuke, Terayama, Yasuo, Murakami, Takenobu, Ugawa, Yoshikazu, Sakamoto, Hiroki, Kaneko, Satoshi, Nakazawa, Yusuke, Yamasaki, Ryo, Sadashima, Shoko, Sakai, Toshiaki, Arai, Hiroaki, Sano, Akira
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6481271/
https://ncbi.nlm.nih.gov/pubmed/31086825
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000328
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