Cardiac valve involvement in ADAR-related type I interferonopathy
Cardiac valve involvement in ADAR-related type I interferonopathy
About this item
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Author / Creator
Publisher
London: BMJ Publishing Group LTD
Journal title
Language
English
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Publisher
London: BMJ Publishing Group LTD
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Scope and Contents
Contents
BackgroundAdenosine deaminases acting on RNA (ADAR) mutations cause a spectrum of neurological phenotypes ranging from severe encephalopathy (Aicardi-Goutières syndrome) to isolated spastic paraplegia and are associated with enhanced type I interferon signalling. In children, non-neurological involvement in the type I interferonopathies includes au...
Alternative Titles
Full title
Cardiac valve involvement in ADAR-related type I interferonopathy
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Record Identifier
TN_cdi_hal_primary_oai_HAL_pasteur_02396619v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_pasteur_02396619v1
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2019-106457