Associated Papers
Mechanistic Basis for a Single Amino Acid Residue Mutation Causing Human DNA Ligase 1 Deficiency, A Rare Pediatric Disease.
Zalenski N et al.
Journal of Molecular Biology, 2024
Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity.
Alajlan H et al.
Journal of Clinical Immunology, 2024
Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation.
Dabrowska-Leonik N et al.
Frontiers in Immunology, 2022
Select a paper to view details