Original paper
Autoinflammation in addition to combined immunodeficiency: SLC29A3 gene defect
Abstract
H Syndrome is an autosomal recessive (AR) disease caused by defects in SLCA29A3 gene. This gene encodes the equilibrative nucleoside transporter, the protein which is highly expressed in spleen, lymph node and bone marrow. Autoinflammation and autoimmunity accompanies H Syndrome (HS).The aim was to further elucidate the mechanisms of disease by molecular studies in a patient with SLC29A3 gene defect.Mitochondrial dysfunction, lysosomal...
Paper Details
Title
Autoinflammation in addition to combined immunodeficiency: SLC29A3 gene defect
Published Date
May 1, 2020
Journal
Volume
121
Pages
28 - 37
Citation AnalysisPro
You’ll need to upgrade your plan to Pro
Looking to understand the true influence of a researcher’s work across journals & affiliations?
- Scinapse’s Top 10 Citation Journals & Affiliations graph reveals the quality and authenticity of citations received by a paper.
- Discover whether citations have been inflated due to self-citations, or if citations include institutional bias.
Notes
History