Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy

Non-coding repeat expansions within RFC1 and NOTCH2NLC genes have lately been linked to multisystem neurodegenerative diseases, which also shed light on yet undiagnosed patients with inherited peripheral neuropathies. The aim of this study was to identify the genetic basis of patients with hereditar...

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Detalles Bibliográficos
Autores principales: Yuan, Jun-Hui, Higuchi, Yujiro, Ando, Masahiro, Matsuura, Eiji, Hashiguchi, Akihiro, Yoshimura, Akiko, Nakamura, Tomonori, Sakiyama, Yusuke, Mitsui, Jun, Ishiura, Hiroyuki, Tsuji, Shoji, Takashima, Hiroshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9428154/
https://www.ncbi.nlm.nih.gov/pubmed/36061987
http://dx.doi.org/10.3389/fneur.2022.986504

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9428154/
https://www.ncbi.nlm.nih.gov/pubmed/36061987
http://dx.doi.org/10.3389/fneur.2022.986504

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