Two rare mutations in homozygosity synergize to silence TREX1 in Aicardi-Goutières syndrome.
Saved in:
| Title: | Two rare mutations in homozygosity synergize to silence TREX1 in Aicardi-Goutières syndrome. |
|---|---|
| Authors: | Rubin T; Section of Pediatric Clinical Immunology and Allergy, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada., Bernier S; IMMUNO-GRAM (Infection and IMMunity Genetic Research to Advance Molecular Medicine) Center of Reference, Research Institute - McGill University Health Centre, Montreal, QC, Canada., Hoon Lim LS; Section of Pediatric Rheumatology, Department of Pediatrics and Child Health, Children's Hospital Research Institute of Manitoba, University of Manitoba, Winnipeg, MB, Canada., Salman MS; Section of Pediatric Neurology, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada., Leung E; Section of Pediatric Neurology, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada., Mhanni A; Section of Genetics and Metabolism, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada., Marles S; Section of Genetics and Metabolism, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada., Greenberg C; Section of Genetics and Metabolism, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada., Perez A; IMMUNO-GRAM (Infection and IMMunity Genetic Research to Advance Molecular Medicine) Center of Reference, Research Institute - McGill University Health Centre, Montreal, QC, Canada., Sun Y; IMMUNO-GRAM (Infection and IMMunity Genetic Research to Advance Molecular Medicine) Center of Reference, Research Institute - McGill University Health Centre, Montreal, QC, Canada., Angers I; IMMUNO-GRAM (Infection and IMMunity Genetic Research to Advance Molecular Medicine) Center of Reference, Research Institute - McGill University Health Centre, Montreal, QC, Canada., Vinh DC; IMMUNO-GRAM (Infection and IMMunity Genetic Research to Advance Molecular Medicine) Center of Reference, Research Institute - McGill University Health Centre, Montreal, QC, Canada.; Department of Medicine (Division of Infectious Diseases), McGill University Health Centre, Montreal, QC, Canada.; Department of OptiLab (Division of Medical Microbiology, Division of Molecular Genetics-Immunology), McGill University Health Centre, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada., Roussel L; IMMUNO-GRAM (Infection and IMMunity Genetic Research to Advance Molecular Medicine) Center of Reference, Research Institute - McGill University Health Centre, Montreal, QC, Canada. |
| Source: | Frontiers in immunology [Front Immunol] 2025 Feb 21; Vol. 16, pp. 1557632. Date of Electronic Publication: 2025 Feb 21 (Print Publication: 2025). |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
|
Full text is not displayed to guests.
Login for full access.
|
|
Be the first to leave a comment!
