Human Disease Phenotypes Associated With Mutations in TREX1
Human Disease Phenotypes Associated With Mutations in TREX1
About this item
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Author / Creator
Publisher
Boston: Springer US
Journal title
Language
English
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Publisher
Boston: Springer US
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Scope and Contents
Contents
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...
Alternative Titles
Full title
Human Disease Phenotypes Associated With Mutations in TREX1
Authors, Artists and Contributors
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Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_02998295v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_02998295v1
Other Identifiers
ISSN
0271-9142
E-ISSN
1573-2592
DOI
10.1007/s10875-015-0147-3
