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...

Szczegółowa specyfikacja

Zapisane w:
Opis bibliograficzny
Wydane w:Clin Genet
Główni autorzy: 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
Format: Artigo
Język:Inglês
Wydane: Blackwell Publishing Ltd 2020
Hasła przedmiotowe:
Original Articles
Dostęp online: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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