OBO ID: DOID:0060021 |
Term Name: | DNA ligase IV deficiency | Search Ontology: | |
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Definition: | A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay. (2) | ||
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Ontology: | Human Disease ( DOID:0060021 ) |
OTHER DNA ligase IV deficiency PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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