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
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.
Maffucci P et al.
The Journal of Clinical Investigation, 2018
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