Novel heterozygous variants of SLC12A6 in Japanese families with Charcot–Marie–Tooth disease

BACKGROUND: Recessive mutations in SLC12A6 have been linked to hereditary motor sensory neuropathy with agenesis of the corpus callosum. Patients with early‐onset peripheral neuropathy associated with SLC12A6 heterozygous variants were reported in 2016. Only five families and three variants have bee...

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Detalles Bibliográficos
Autores principales: Ando, Masahiro, Higuchi, Yujiro, Yuan, Junhui, Yoshimura, Akiko, Taniguchi, Takaki, Takei, Jun, Takeuchi, Mika, Hiramatsu, Yu, Shimizu, Fumitaka, Kubota, Masaya, Takeshima, Akari, Ueda, Takehiro, Koh, Kishin, Nagaoka, Utako, Tokashiki, Takashi, Sawai, Setsu, Sakiyama, Yusuke, Hashiguchi, Akihiro, Sato, Ryota, Kanda, Takashi, Okamoto, Yuji, Takashima, Hiroshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9268887/
https://www.ncbi.nlm.nih.gov/pubmed/35733399
http://dx.doi.org/10.1002/acn3.51603

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