High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer...
High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease
About this item
Full title
Author / Creator
PHRC GMAJ Collaborators , Pottier, C , Hannequin, D , Coutant, S , Rovelet-Lecrux, A , Wallon, D , Rousseau, S , Legallic, S , Paquet, C , Bombois, S , Pariente, J , Thomas-Anterion, C , Michon, A , Croisile, B , Etcharry-Bouyx, F , Berr, C , Dartigues, J-F , Amouyel, P , Dauchel, H , Boutoleau-Bretonnière, C , Thauvin, C , Frebourg, T , Lambert, J-C and Campion, D
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Performing exome sequencing in 14 autosomal dominant early-onset Alzheimer disease (ADEOAD) index cases without mutation on known genes (amyloid precursor protein (
APP
), presenilin1 (
PSEN1
) and presenilin2 (
PSEN2
)), we found that in five patients, the
SORL1
gene harbored unknown nonsense (
n
=1) or missense (
...
Alternative Titles
Full title
High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease
Authors, Artists and Contributors
Author / Creator
Pottier, C
Hannequin, D
Coutant, S
Rovelet-Lecrux, A
Wallon, D
Rousseau, S
Legallic, S
Paquet, C
Bombois, S
Pariente, J
Thomas-Anterion, C
Michon, A
Croisile, B
Etcharry-Bouyx, F
Berr, C
Dartigues, J-F
Amouyel, P
Dauchel, H
Boutoleau-Bretonnière, C
Thauvin, C
Frebourg, T
Lambert, J-C
Campion, D
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_00965204v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_00965204v1
Other Identifiers
ISSN
1359-4184
E-ISSN
1476-5578
DOI
10.1038/mp.2012.15
