Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort

Systemic lupus erythematosus (SLE) is a prototypic autoimmune disorder with a complex pathogenesis in which genetic, hormonal and environmental factors have a role. Rare mutations in the TREX1 gene, the major mammalian 3?-5? exonuclease, have been reported in sporadic SLE cases. Some of these mutati...

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Autores:
Tipo de recurso:
Fecha de publicación:
2011
Institución:
Universidad del Rosario
Repositorio:
Repositorio EdocUR - U. Rosario
Idioma:
eng
OAI Identifier:
oai:repository.urosario.edu.co:10336/24134
Acceso en línea:
https://doi.org/10.1038/gene.2010.73
https://repository.urosario.edu.co/handle/10336/24134
Palabra clave:
Autoantibody
Exonuclease
Three prime repair exonuclease 1
Unclassified drug
Adolescent
Adult
Article
Controlled study
Female
Genetic analysis
Genetic association
Genotype
Haplotype
Heterozygote
Human
Major clinical study
Male
Priority journal
Race difference
Seizure
Single nucleotide polymorphism
Systemic lupus erythematosus
Cohort studies
Exodeoxyribonucleases
Female
Haplotypes
Humans
Male
Mutation
Phenotype
Phosphoproteins
Mammalia
Autoimmunity
Sle
Trex1
single nucleotide
systemic
Lupus erythematosus
Polymorphism
Rights
License
Abierto (Texto Completo)