The First Case Report of X-Linked Sideroblastic Anemia With Ataxia of Chinese Origin and Literature Review

X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare X-liked inherited disease, which was linked to the ABCB7 gene mutations. So far, five families have been reported worldwide. We present the first Chinese family of XLSA/A with novel ABCB7 gene mutation (c.2024A > G) and make a retrospec...

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Detalles Bibliográficos
Autores principales: Xiong, Shiqiu, Jia, Yang, Li, Shijun, Huang, Peng, Xiong, Jie, Mao, Dingan, He, Qingnan, Liu, Liqun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8329551/
https://www.ncbi.nlm.nih.gov/pubmed/34354969
http://dx.doi.org/10.3389/fped.2021.692459

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8329551/
https://www.ncbi.nlm.nih.gov/pubmed/34354969
http://dx.doi.org/10.3389/fped.2021.692459

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