Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease

Neurobiology of Aging

Volumn 35, Issue 10, 2014, Pages 2422.e13-2422.e16

  Sassi, Celeste ^a,b   Guerreiro, Rita ^a,b   Gibbs, Raphael ^a,b   Ding, Jinhui ^b   Lupton, Michelle K ^c   Troakes, Claire ^c   Lunnon, Katie ^c   Al Sarraj, Safa ^c   Brown, Kristelle S ^d   Medway, Chirstopher ^d   Lord, Jenny ^d   Turton, James ^d   Mann, David ^e   Snowden, Julie ^f   Neary, David ^f   Harris, Jeniffer ^f   Bras, Jose ^a   Morgan, Kevin ^d   Powell, John F ^c   Singleton, Andrew ^b   Hardy, John ^a   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b NATIONAL INSTITUTE ON AGING   (United States)

^c KING'S COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^e UNIVERSITY OF MANCHESTER   (United Kingdom)

^f Greater Manchester Neurosciences Centre   (United Kingdom)

Author keywords

APP; British cohort; Early onset Alzheimer's disease; PSEN1; PSEN2

Indexed keywords

AMYLOID PRECURSOR PROTEIN; PRESENILIN 1; PRESENILIN 2;

ADULT; AGED; ALZHEIMER DISEASE; APP GENE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CAUCASIAN; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; EARLY ONSET ALZHEIMER DISEASE; EXOME; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC IDENTIFICATION; GENETIC VARIABILITY; HUMAN; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOGENICITY; PRIORITY JOURNAL; PSEN1 GENE; PSEN2 GENE; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; DIFFERENTIAL DIAGNOSIS; DNA SEQUENCE; DOMINANT GENE; GENETICS; MIDDLE AGED; MUTATION; UNITED KINGDOM; VERY ELDERLY;

ADULT; AGED; AGED, 80 AND OVER; ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN PRECURSOR; COHORT STUDIES; DIAGNOSIS, DIFFERENTIAL; EXOME; FEMALE; GENES, DOMINANT; GENETIC ASSOCIATION STUDIES; GREAT BRITAIN; HUMANS; MALE; MIDDLE AGED; MUTATION; PRESENILIN-1; PRESENILIN-2; SEQUENCE ANALYSIS, DNA;

EID: 84903818205     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2014.04.026     Document Type: Article

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