Cargando…
Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation
Autores principales: | , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6936312/ https://www.ncbi.nlm.nih.gov/pubmed/32042913 http://dx.doi.org/10.1212/NXG.0000000000000384 |
_version_ | 1783483718396018688 |
---|---|
author | Tüngler, Victoria Doebler-Neumann, Marion Salandin, Michaela Kaufmann, Peter Wolf, Christine Lucas, Nadja Harmuth, Florian Reichbauer, Jennifer Krägeloh-Mann, Ingeborg Schüle, Rebecca Lee-Kirsch, Min Ae |
author_facet | Tüngler, Victoria Doebler-Neumann, Marion Salandin, Michaela Kaufmann, Peter Wolf, Christine Lucas, Nadja Harmuth, Florian Reichbauer, Jennifer Krägeloh-Mann, Ingeborg Schüle, Rebecca Lee-Kirsch, Min Ae |
author_sort | Tüngler, Victoria |
collection | PubMed |
description | |
format | Online Article Text |
id | pubmed-6936312 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Wolters Kluwer |
record_format | MEDLINE/PubMed |
spelling | pubmed-69363122020-02-10 Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation Tüngler, Victoria Doebler-Neumann, Marion Salandin, Michaela Kaufmann, Peter Wolf, Christine Lucas, Nadja Harmuth, Florian Reichbauer, Jennifer Krägeloh-Mann, Ingeborg Schüle, Rebecca Lee-Kirsch, Min Ae Neurol Genet Clinical/Scientific Notes Wolters Kluwer 2019-12-19 /pmc/articles/PMC6936312/ /pubmed/32042913 http://dx.doi.org/10.1212/NXG.0000000000000384 Text en Copyright © 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND) (http://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
spellingShingle | Clinical/Scientific Notes Tüngler, Victoria Doebler-Neumann, Marion Salandin, Michaela Kaufmann, Peter Wolf, Christine Lucas, Nadja Harmuth, Florian Reichbauer, Jennifer Krägeloh-Mann, Ingeborg Schüle, Rebecca Lee-Kirsch, Min Ae Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation |
title | Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation |
title_full | Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation |
title_fullStr | Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation |
title_full_unstemmed | Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation |
title_short | Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation |
title_sort | aicardi-goutières syndrome due to a paternal mosaic ifih1 mutation |
topic | Clinical/Scientific Notes |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6936312/ https://www.ncbi.nlm.nih.gov/pubmed/32042913 http://dx.doi.org/10.1212/NXG.0000000000000384 |
work_keys_str_mv | AT tunglervictoria aicardigoutieressyndromeduetoapaternalmosaicifih1mutation AT doeblerneumannmarion aicardigoutieressyndromeduetoapaternalmosaicifih1mutation AT salandinmichaela aicardigoutieressyndromeduetoapaternalmosaicifih1mutation AT kaufmannpeter aicardigoutieressyndromeduetoapaternalmosaicifih1mutation AT wolfchristine aicardigoutieressyndromeduetoapaternalmosaicifih1mutation AT lucasnadja aicardigoutieressyndromeduetoapaternalmosaicifih1mutation AT harmuthflorian aicardigoutieressyndromeduetoapaternalmosaicifih1mutation AT reichbauerjennifer aicardigoutieressyndromeduetoapaternalmosaicifih1mutation AT kragelohmanningeborg aicardigoutieressyndromeduetoapaternalmosaicifih1mutation AT schulerebecca aicardigoutieressyndromeduetoapaternalmosaicifih1mutation AT leekirschminae aicardigoutieressyndromeduetoapaternalmosaicifih1mutation |