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A case of dementia with PRNP D178Ncis-129M and no insomnia

OBJECTIVE: To describe a dementia case clinically diagnosed as Alzheimer’s disease with a PRNP genotype usually associated with Familial Fatal insomnia. METHODS: PCR amplification and subsequent direct sequencing of PGRN, MAPT, PSEN1, PSEN2, APP and PRNP genes. RESULTS: A point mutation (D178N) was...

詳細記述

保存先:
書誌詳細
主要な著者: Guerreiro, Rita J., Vaskov, Tina, Crews, Cynthia, Singleton, Andrew, Hardy, John
フォーマット: Artigo
言語:Inglês
出版事項: 2009
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2787867/
https://ncbi.nlm.nih.gov/pubmed/19571725
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/WAD.0b013e3181ae3a76
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