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Clinical features and genetic characteristics of two Chinese pedigrees with fatal family insomnia
Background: Fatal familial insomnia (FFI) is a rare autosomal-dominant inherited prion disease characterized clinically by severe sleep disorder, motor signs, dysautonomia and abnormal behaviour. FFI is caused by a missense mutation at codon 178 of the prion protein gene (PRNP). Our study is aimed t...
Autores principales: | He, Runcheng, Hu, Yacen, Yao, Lingyan, Tian, Yun, Zhou, Yafang, Yi, Fang, Zhou, Lin, Xu, Hongwei, Sun, Qiying |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Taylor & Francis
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6629183/ https://www.ncbi.nlm.nih.gov/pubmed/31122137 http://dx.doi.org/10.1080/19336896.2019.1617027 |
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