Human Disease Phenotypes Associated With Mutations in TREX1
GI Rice, MP Rodero, YJ Crow - Journal of clinical immunology, 2015 - Springer
GI Rice, MP Rodero, YJ Crow
Journal of clinical immunology, 2015•SpringerConsidering 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.
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
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.
Springer
