Reduced penetrance of the PSEN1 H163Y autosomal dominant Alzheimer mutation: a 22-year follow-up study

BACKGROUND: The range of onset ages within some PSEN1 families is wide, and a few cases of reduced penetrance of PSEN1 mutations have been reported. However, published data on reduced penetrance have been limited to clinical histories, often collected retrospectively and lacking biomarker informatio...

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Détails bibliographiques
Publié dans:Alzheimers Res Ther
Auteurs principaux: Thordardottir, Steinunn, Rodriguez-Vieitez, Elena, Almkvist, Ove, Ferreira, Daniel, Saint-Aubert, Laure, Kinhult-Ståhlbom, Anne, Thonberg, Håkan, Schöll, Michael, Westman, Eric, Wall, Anders, Eriksdotter, Maria, Zetterberg, Henrik, Blennow, Kaj, Nordberg, Agneta, Graff, Caroline
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2018
Sujets:
Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5944151/
https://ncbi.nlm.nih.gov/pubmed/29747683
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13195-018-0374-y
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