Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction

BACKGROUND: Three main genes are described as causative genes for early-onset Alzheimer dementia (EOAD): APP, PSEN1 and PSEN2. We describe a woman with EOAD had a novel PSEN1 mutation. CASE REPORT: A 54-year-old right-handed woman presented 12-year history of progressive memory decline. She was clin...

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Bibliografiska uppgifter
I publikationen:BMC Neurol
Huvudupphovsmän: An, Seong Soo A., Bagyinszky, Eva, Kim, Hye Ryoun, Seok, Ju-Won, Shin, Hae-Won, Bae, SeunOh, Kim, SangYun, Youn, Young Chul
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2016
Ämnen:
Case Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4875656/
https://ncbi.nlm.nih.gov/pubmed/27206484
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-016-0591-6
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