학술논문
Human Disease Phenotypes Associated With Mutations in TREX1.
Document Type
Article
Author
Source
Subject
*GENETIC mutation
*EXONS (Genetics)
*AMINO acids
*AICARDI-Goutieres syndrome
*SYSTEMIC lupus erythematosus
*LEUKODYSTROPHY
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Language
ISSN
0271-9142
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. [ABSTRACT FROM AUTHOR]