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...

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Dades bibliogràfiques
Publicat a:Prion
Autors principals: He, Runcheng, Hu, Yacen, Yao, Lingyan, Tian, Yun, Zhou, Yafang, Yi, Fang, Zhou, Lin, Xu, Hongwei, Sun, Qiying
Format: Artigo
Idioma:Inglês
Publicat: Taylor & Francis 2019
Matèries:
Research Paper
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6629183/
https://ncbi.nlm.nih.gov/pubmed/31122137
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/19336896.2019.1617027
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