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- Title
Atypical splice-site mutations causing VEXAS syndrome.
- Authors
Templé, Marie; Duroyon, Eugénie; Croizier, Carolyne; Rossignol, Julien; Huet, Thomas; Friedrich, Chloé; Zalmai, Loria; Priollet, Pascal; Hayem, Gilles; Tournillhac, Olivier; Guenno, Guillaume Le; Hermine, Olivier; Terrier, Benjamin; Kosmider, Olivier
- Abstract
The article presents two male patients who present atypical splice-site mutations of ubiquitin-like modifier activating enzyme 1 (UBA1) in a context of VEXAS syndrome. Highlights include bone marrow examinations of unique patient numbers (UPN) 1 and 2, analysis of genomic deoxyribonucleic acid (DNA) for UPN1 from bone marrow using Sanger sequencing, and examination of complementary DNA using specific primers.
- Subjects
MYELODYSPLASTIC syndromes; GENETIC mutation; SEQUENCE analysis; INFLAMMATION; MACROCYTIC anemia; GENETIC disorders; SEVERITY of illness index; PANCYTOPENIA; RECOMBINANT DNA; BONE marrow examination; SWEET'S syndrome
- Publication
Rheumatology, 2021, Vol 60, Issue 12, pe435
- ISSN
1462-0324
- Publication type
Case Study
- DOI
10.1093/rheumatology/keab524