CORE
🇺🇦
make metadata, not war
Services
Services overview
Explore all CORE services
Access to raw data
API
Dataset
FastSync
Content discovery
Recommender
Discovery
OAI identifiers
OAI Resolver
Managing content
Dashboard
Bespoke contracts
Consultancy services
Support us
Support us
Membership
Sponsorship
Community governance
Advisory Board
Board of supporters
Research network
About
About us
Our mission
Team
Blog
FAQs
Contact us
Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation
Authors
S. Alinaghi
L.J. Azcona
+7 more
H. Darvish
A. Goate
S. Karkheiran
C. Paisán-Ruiz
E. Sikora
A. Tafakhori
J.-C. Wang
Publication date
1 January 2018
Publisher
Abstract
A subset of early-onset Alzheimer's disease is inherited as an autosomal-dominant trait and is associated with mutations in the genes encoding β-amyloid precursor protein, presenilin 1, or presenilin 2. In this study, we identified 2 PSEN1 mutations (1 novel and 1 known) in 2 unrelated Iranian families with autosomal-dominant Alzheimer's disease. The disease progressed rapidly with a mean age at onset of 33 and 42 years and an age at death ranging from 43 to 48 years. © 2017 Elsevier Inc
Similar works
Full text
Available Versions
eprints Iran University of Medical Sciences
See this paper in CORE
Go to the repository landing page
Download from data provider
oai:eprints.iums.ac.ir:6937
Last time updated on 10/10/2019
eprints Iran University of Medical Sciences
See this paper in CORE
Go to the repository landing page
Download from data provider
oai:eprints.iums.ac.ir:672
Last time updated on 10/10/2019