In April 2016 Manchester eScholar was replaced by the University of Manchester’s
new Research Information Management System, Pure. In the autumn the University’s research
outputs will be available to search and browse via a new Research Portal. Until then
the University’s full publication record can be accessed via a
temporary portal and the old eScholar content is available to search and browse via this archive.
Related resources
Full-text held externally
- PMID: 25731743
- UKPMCID: 25731743
- DOI: 10.1007/s10875-015-0147-3
Search for item elsewhere
University researcher(s)
Academic department(s)
Human Disease Phenotypes Associated With Mutations in TREX1.
Rice, Gillian I; Rodero, Mathieu P; Crow, Yanick J
Journal of clinical immunology. 2015;35(3):235-43.
Access to files
Full-text and supplementary files are not available from Manchester eScholar. Full-text is available externally using the following links:
Full-text held externally
- PMID: 25731743
- UKPMCID: 25731743
- DOI: 10.1007/s10875-015-0147-3
Abstract
Considering that it is a single exon gene encoding a 314 amino acid protein, the genotype-phenotype landscape of TREX1 is remarkably complex. Here we briefly describe the human diseases so-far associated with mutations in TREX1, which include Aicardi-Goutières syndrome, familial chilblain lupus, systemic lupus erythematosus and retinal vasculopathy with cerebral leukodystrophy.
Bibliographic metadata
Type of resource:
Content type:
Publication type:
Author(s):
Published date:
Article title:
Journal title:
Abbreviated journal title:
ISSN:
Place of publication:
Netherlands
Volume:
35
Issue:
3
Pagination:
235-43
Digital Object Identifier:
10.1007/s10875-015-0147-3
Pubmed Identifier:
25731743
Access state:
Active
Institutional metadata
University researcher(s):
Academic department(s):
Record metadata
Manchester eScholar ID:
uk-ac-man-scw:263152
Created by:
Chase, Diana
Created:
21st April, 2015, 16:46:29
Last modified by:
Chase, Diana
Last modified:
21st April, 2015, 16:46:29