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Screening for REEP1 Mutations in 31 Chinese Hereditary Spastic Paraplegia Families

Background: REEP1 is a common cause of autosomal dominant hereditary spastic paraplegia (HSP) but is rare in China. The pathological mechanism of REEP1 is not fully understood. Methods: We screened for REEP1 mutations in 31 unrelated probands from Chinese HSP families using next-generation sequencin...

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Bibliografiset tiedot
Julkaisussa:Front Neurol
Päätekijät: Ma, Xinran, He, Ji, Liu, Xiaoxuan, Fan, Dongsheng
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Frontiers Media S.A. 2020
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7325443/
https://ncbi.nlm.nih.gov/pubmed/32655478
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2020.00499
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