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Article

Clinical profile of fatal familial insomnia: phenotypic variation in 129 polymorphisms and geographical regions.

Journal of neurology, neurosurgery, and psychiatry - 1 Mar 2022

Zhang Jing, Chu Min, Tian ZiChen, Xie KeXin, Cui Yue, Liu Li, Meng JiaLi, Yan HaiHan, Ji Yang-Mingyue, Jiang Zhuyi, Xia Tian-Xinyu, Wang Dongxin, Wang Xin, Zhao Ye, Ye Hong, Li Junjie, Wang Lin, Wu Liyong

Abstract excerpt

OBJECTIVE: Elucidate the core clinical and genetic characteristics and identify the phenotypic variation between different regions and genotypes of fatal familial insomnia (FFI). METHODS: A worldwide large sample of FFI patients from our case series and literature review diagnosed by genetic testing were collected. The prevalence of clinical symptoms and genetic profile were obtained, and then the phenotypic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34667102
DOI: 10.1136/jnnp-2021-327247
PMCID: PMC8862016

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