MPZ gene variant site in Chinese patients with Charcot–Marie–Tooth disease

BACKGROUND: Charcot–Marie–Tooth disease (CMT) is a hereditary monogenic peripheral nerve disease. Variants in the gene encoding myelin protein zero (MPZ) lead to CMT, and different variants have different clinical phenotypes. A variant site, namely, c.389A > G (p.Lys130Arg), in the MPZ gene has b...

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Detalles Bibliográficos
Autores principales: Hao, Xiaoyan, Li, Chong, Lv, Yunguo, Zhou, Tongtong, Tian, Hao, Ma, Yaru, Ding, Jiangwei, Li, Xinxiao, Wang, Yangyang, Wang, Lei, Yang, Ping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000946/
https://www.ncbi.nlm.nih.gov/pubmed/35174662
http://dx.doi.org/10.1002/mgg3.1890

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