A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review

Adrenomyeloneuropathy (AMN) is a kind of varied disease caused by ABCD1 gene mutation and characterized by very-long-chain fatty acids (VLCFA) accumulation. It is diagnosed by clinical features, high VLCFAs levels and ABCD1 gene mutation. AMN is rarely reported in Chinese population. In this study,...

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Detalles Bibliográficos
Autores principales: Zhang, Yu, Zhang, Guoyong, Chen, Wenhui, Pu, Zheng, Song, Lu, Tang, Xinghua, Liu, Zhenguo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Chongqing Medical University 2020
Materias:
Full Length Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8278541/
https://www.ncbi.nlm.nih.gov/pubmed/34291142
http://dx.doi.org/10.1016/j.gendis.2020.01.009

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8278541/
https://www.ncbi.nlm.nih.gov/pubmed/34291142
http://dx.doi.org/10.1016/j.gendis.2020.01.009

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