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PSEN1 Q15H

MUTATIONS PSEN1 73614772 GRCh37/hg19 rs1330528266 G C Exon 3 Point, Missense Coding Unknown. Multiple in silico algorithms yielded conflicting results. Unknown Q15H Frontotemporal Dementia: Not ClassifiedFrontotemporal Dementia This mutation was identified in a gen

Why Bother With Round Robins on Blood Tests? Q&A with Kaj Blennow

CONFERENCE COVERAGE 2019-08-21 Conference Coverage At the AAIC conference held July 14–18 in Los Angeles, Kaj Blennow of the University of Gothenburg had his hands full trying to get researchers in the field engaged in the nitpicky drudgery of validation, standardization, and commutabi

Are Aβ Blood Tests Ready for Prime Time?

CONFERENCE COVERAGE 2019-08-21 Conference Coverage In the short space of two years, the erstwhile fantasy of a blood test for Alzheimer’s disease has become reality. Or so it seems. At the 2017 Alzheimer’s Association International Conference in London, Randall Bateman, Washington Univ

PSEN1 P303L

MUTATIONS PSEN1 73673133 GRCh37/hg19 rs147638016 C T Exon 9 Point, Missense Coding Unknown. In silico algorithms yielded conflicting results. Unknown. P303L Frontotemporal Dementia: Not ClassifiedFrontotemporal Dementia This mutation was identified in a genetic scr

PSEN1 R42L

MUTATIONS PSEN1 73637542 GRCh37/hg19 rs3677775281 G T Exon 4 Point, Missense Coding Unknown. Multiple in silico algorithms yielded conflicting results. Unknown. R42L Alzheimer's Disease: Not ClassifiedAlzheimer's Disease This mutation was identified in a

Matthew Engel


Albert Einstein College of Medicine
Bronx, United States

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