Mutations in MME cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2

OBJECTIVE: The objective of this study was to identify new causes of Charcot–Marie–Tooth (CMT) disease in patients with autosomal‐recessive (AR) CMT. METHODS: To efficiently identify novel causative genes for AR‐CMT, we analyzed 303 unrelated Japanese patients with CMT using whole‐exome sequencing a...

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Detalhes bibliográficos
Publicado no:Ann Neurol
Main Authors: Higuchi, Yujiro, Hashiguchi, Akihiro, Yuan, Junhui, Yoshimura, Akiko, Mitsui, Jun, Ishiura, Hiroyuki, Tanaka, Masaki, Ishihara, Satoshi, Tanabe, Hajime, Nozuma, Satoshi, Okamoto, Yuji, Matsuura, Eiji, Ohkubo, Ryuichi, Inamizu, Saeko, Shiraishi, Wataru, Yamasaki, Ryo, Ohyagi, Yasumasa, Kira, Jun‐ichi, Oya, Yasushi, Yabe, Hayato, Nishikawa, Noriko, Tobisawa, Shinsuke, Matsuda, Nozomu, Masuda, Masayuki, Kugimoto, Chiharu, Fukushima, Kazuhiro, Yano, Satoshi, Yoshimura, Jun, Doi, Koichiro, Nakagawa, Masanori, Morishita, Shinichi, Tsuji, Shoji, Takashima, Hiroshi
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2016
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5069600/
https://ncbi.nlm.nih.gov/pubmed/26991897
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.24612
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