Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias

BACKGROUND: Although many causative genes have been uncovered in recent years, genetic diagnosis is still missing for approximately 50% of autosomal recessive cerebellar ataxia (ARCA) patients. Few studies have been performed to determine the genetic spectrum and clinical profile of ARCA patients in...

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Detalles Bibliográficos
Autores principales: Cheng, Hao-Ling, Shao, Ya-Ru, Dong, Yi, Dong, Hai-Lin, Yang, Lu, Ma, Yin, Shen, Ying, Wu, Zhi-Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8522248/
https://www.ncbi.nlm.nih.gov/pubmed/34663476
http://dx.doi.org/10.1186/s40035-021-00264-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8522248/
https://www.ncbi.nlm.nih.gov/pubmed/34663476
http://dx.doi.org/10.1186/s40035-021-00264-z

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