Reduced penetrance of the PSEN1 H163Y autosomal dominant Alzheimer mutation: a 22-year follow-up stu...
Reduced penetrance of the PSEN1 H163Y autosomal dominant Alzheimer mutation: a 22-year follow-up study
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England: BioMed Central Ltd
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English
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England: BioMed Central Ltd
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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 information. We present a case of reduced penetrance of the PSEN1 H163Y...
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Reduced penetrance of the PSEN1 H163Y autosomal dominant Alzheimer mutation: a 22-year follow-up study
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TN_cdi_doaj_primary_oai_doaj_org_article_d3fa77adf18d4a27a2f76ccc9838cfcc
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_d3fa77adf18d4a27a2f76ccc9838cfcc
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ISSN
1758-9193
E-ISSN
1758-9193
DOI
10.1186/s13195-018-0374-y
