# C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/c-terminal-truncations-in-human-3-5-dna-exonuclease-trex1-cause-autosomal/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Anna Richards,Arn M. J. M. van den Maagdenberg,Joanna C. Jen,David Kavanagh,Paula Bertram,Dirk Spitzer,M. Kathryn Liszewski,Maria Louise Barilla-Labarca,Gisela M. Terwindt,Yumi Kasai,Mike McLellan,M. Gilbert Grand,Kaate R. J. Vanmolkot,Boukje de Vries,Jijun Wan,Michael J. Kane,Hafsa Mamsa,R Schäfer,Anine H Stam,Joost Haan,Paulus T.V.M. de Jong,Caroline W. J. M. Storimans,Mary J. van Schooneveld,J.A. Oosterhuis,Andreas Gschwendter,Martin Dichgans,Katya Kotschet,Suzanne Hodgkinson,Todd A. Hardy,Martin B. Delatycki,Rula A. Hajj‐Ali,Parul H. Kothari,Stanley F. Nelson,Rune R. Frants,Robert W. Baloh,Michel D. Ferrari,John P. Atkinson |
| Citations | 454 |
| DOI | 10.1038/ng2082 |
| Fields | Immunology and Microbiology,Medicine |
| Open Access | false |
| OA Status | closed |
| OpenAlex ID | https://openalex.org/W2075172390 |
| PMID | 17660820 |
| Type | article |
| Year | 2007 |

## Paper authors

- [David Kavanagh](https://scholariq.org/researchers/david-kavanagh/)

## Paper primary topic

- [interferon and immune responses](https://scholariq.org/topics/interferon-and-immune-responses/)

## Paper topics

- [interferon and immune responses](https://scholariq.org/topics/interferon-and-immune-responses/)
- [Ocular Diseases and Behçet’s Syndrome](https://scholariq.org/topics/ocular-diseases-and-behcet-s-syndrome/)
- [Neutrophil, Myeloperoxidase and Oxidative Mechanisms](https://scholariq.org/topics/neutrophil-myeloperoxidase-and-oxidative-mechanisms/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.