Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible

Various genomic variants were linked to inherited peripheral neuropathies (IPNs), including large duplication/deletion and repeat expansion, making genetic diagnosis challenging. This large case series aimed to identify the genetic characteristics of Japanese patients with IPNs. We collected data on...

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Detalles Bibliográficos
Autores principales: Ando, Masahiro, Higuchi, Yujiro, Yuan, Junhui, Yoshimura, Akiko, Taniguchi, Takaki, Kojima, Fumikazu, Noguchi, Yutaka, Hobara, Takahiro, Takeuchi, Mika, Takei, Jun, Hiramatsu, Yu, Sakiyama, Yusuke, Hashiguchi, Akihiro, Okamoto, Yuji, Mitsui, Jun, Ishiura, Hiroyuki, Tsuji, Shoji, Takashima, Hiroshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9312503/
https://www.ncbi.nlm.nih.gov/pubmed/35884855
http://dx.doi.org/10.3390/biomedicines10071546

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9312503/
https://www.ncbi.nlm.nih.gov/pubmed/35884855
http://dx.doi.org/10.3390/biomedicines10071546

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