Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at t...
Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus
About this item
Full title
Author / Creator
Crow, Yanick J , Hayward, Bruce E , Parmar, Rekha , Robins, Peter , Leitch, Andrea , Ali, Manir , Black, Deborah N , van Bokhoven, Hans , Brunner, Han G , Hamel, Ben C , Corry, Peter C , Cowan, Frances M , Frints, Suzanne G , Klepper, Joerg , Livingston, John H , Lynch, Sally Ann , Massey, Roger F , Meritet, Jean François , Michaud, Jacques L , Ponsot, Gerard , Voit, Thomas , Lebon, Pierre , Bonthron, David T , Jackson, Andrew P , Barnes, Deborah E and Lindahl, Tomas
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
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Publication information
Publisher
New York: Nature Publishing Group US
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More information
Scope and Contents
Contents
Aicardi-Goutières syndrome (AGS) presents as a severe neurological brain disease and is a genetic mimic of the sequelae of transplacentally acquired viral infection
1
,
2
. Evidence exists for a perturbation of innate immunity as a primary pathogenic event in the disease phenotype
3
. Here, we show that
TREX1
, encoding the...
Alternative Titles
Full title
Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus
Authors, Artists and Contributors
Author / Creator
Hayward, Bruce E
Parmar, Rekha
Robins, Peter
Leitch, Andrea
Ali, Manir
Black, Deborah N
van Bokhoven, Hans
Brunner, Han G
Hamel, Ben C
Corry, Peter C
Cowan, Frances M
Frints, Suzanne G
Klepper, Joerg
Livingston, John H
Lynch, Sally Ann
Massey, Roger F
Meritet, Jean François
Michaud, Jacques L
Ponsot, Gerard
Voit, Thomas
Lebon, Pierre
Bonthron, David T
Jackson, Andrew P
Barnes, Deborah E
Lindahl, Tomas
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_762278356
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_762278356
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng1845
