Genetic spectrum of Charcot–Marie–Tooth disease associated with myelin protein zero gene variants in Japan

We aimed to reveal the genetic features associated with MPZ variants in Japan. From April 2007 to August 2017, 64 patients with 23 reported MPZ variants and 21 patients with 17 novel MPZ variants were investigated retrospectively. Variation in MPZ variants and the pathogenicity of novel variants was...

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Publicado en:Clin Genet
Autores principales: Taniguchi, Takaki, Ando, Masahiro, Okamoto, Yuji, Yoshimura, Akiko, Higuchi, Yujiro, Hashiguchi, Akihiro, Shiga, Kensuke, Hayashida, Arisa, Hatano, Taku, Ishiura, Hiroyuki, Mitsui, Jun, Hattori, Nobutaka, Mizuno, Toshiki, Nakagawa, Masanori, Tsuji, Shoji, Takashima, Hiroshi
Formato: Artigo
Lenguaje:Inglês
Publicado: Blackwell Publishing Ltd 2020
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Original Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7898366/
https://ncbi.nlm.nih.gov/pubmed/33179255
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13881
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