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Cardiac valve involvement in ADAR-related type I interferonopathy

Cardiac valve involvement in ADAR-related type I interferonopathy

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_pasteur_02396619v1

Cardiac valve involvement in ADAR-related type I interferonopathy

About this item

Full title

Cardiac valve involvement in ADAR-related type I interferonopathy

Publisher

London: BMJ Publishing Group LTD

Journal title

Journal of medical genetics, 2020-07, Vol.57 (7), p.475-478

Language

English

Formats

Publication information

Publisher

London: BMJ Publishing Group LTD

More information

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

Identifiers

Primary Identifiers

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

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