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Journal of Clinical Immunology
Erschienen in: Journal of Clinical Immunology 3/2015

01.04.2015 | CME REVIEW

Human Disease Phenotypes Associated With Mutations in TREX1

verfasst von: Gillian I. Rice, Mathieu P. Rodero, Yanick J. Crow

Erschienen in: Journal of Clinical Immunology | Ausgabe 3/2015

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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.
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Metadaten
Titel
Human Disease Phenotypes Associated With Mutations in TREX1
verfasst von
Gillian I. Rice
Mathieu P. Rodero
Yanick J. Crow
Publikationsdatum
01.04.2015
Verlag
Springer US
Erschienen in
Journal of Clinical Immunology / Ausgabe 3/2015
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-015-0147-3

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