Identification and functional characterization of novel GDAP1 variants in Chinese patients with Charcot–Marie–Tooth disease

OBJECTIVE: To identify and characterize the pathogenicity of novel variants in Chinese patients with Charcot–Marie–Tooth disease. METHODS: Multiplex ligation‐dependent probe amplification (MLPA) and whole‐exome sequencing (WES) were performed in 30 unrelated CMT patients. Minigene assay was used to...

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Detalles Bibliográficos
Autores principales: Chen, Cong‐Xin, Li, Jia‐Qi, Dong, Hai‐Lin, Liu, Gong‐Lu, Bai, Ge, Wu, Zhi‐Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7732252/
https://www.ncbi.nlm.nih.gov/pubmed/33136338
http://dx.doi.org/10.1002/acn3.51233

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7732252/
https://www.ncbi.nlm.nih.gov/pubmed/33136338
http://dx.doi.org/10.1002/acn3.51233

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