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Article

Aberrant DNA repair and DNA replication due to an inherited enzymatic defect in human DNA ligase I.

Molecular and cellular biology - 1 Jan 1994

Prigent C, Satoh M S, Daly G, Barnes D E, Lindahl T

Abstract excerpt

Two missense mutations in different alleles of the DNA ligase I gene have been described in a patient (46BR) with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents. One of the mutant alleles produces an inactive protein, while the other encodes an enzyme with some residual activity. A subline of identical phenotype that is homozygous (or hemizygous) for the mutant allele encoding this...

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Identifiers

PMID: 8264597
DOI: 10.1128/mcb.14.1.310-317.1994
PMCID: PMC358380

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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