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Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11

BACKGROUND: Spastic paraplegia type 11 (SPG11) mutations are the most frequent cause of autosomal recessive hereditary spastic paraplegia (ARHSP). We are aiming to identify the causative mutations in SPG11 among families referred to our center with ARHSP in a Chinese population. METHODS: Targeted ne...

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Podrobná bibliografie
Vydáno v:BMC Neurol
Hlavní autoři: Chen, Xueping, Liu, Jiao, Wei, Qian-Qian, Ou, Ru Wei, Cao, Bei, Yuan, Xiaoqin, Hou, Yanbing, Zhang, Lingyu, Shang, Huifang
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2020
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6941247/
https://ncbi.nlm.nih.gov/pubmed/31900114
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-019-1593-y
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