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Article

DNA ligase I deficiency in Bloom's syndrome.

Nature - 1 Jan 2000

Willis A E, Lindahl T

Abstract excerpt

Certain rare human diseases with autosomal recessive mode of inheritance are associated with a greatly increased cancer frequency which may reflect specific defects in DNA repair or replication. These disorders include xeroderma pigmentosum, ataxia-telangiectasia, Fanconi's anaemia and Bloom's syndrome. Cells from individuals with Bloom's syndrome usually grow slowly in culture and exhibit increased chromosomal...

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Identifiers

PMID: 3808031
DOI: 10.1038/325355a0

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

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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DNA ligase I deficiency in Bloom's syndrome.PMID 3808031Read ↗

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Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents.Semantic proximity Read ↗

DNA ligase IV syndrome; a review.Semantic proximity Read ↗

Depletion of the bloom syndrome helicase stimulates homology-dependent repair at double-strand breaks in human chromosomes.Semantic proximity Read ↗

DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.Semantic proximity Read ↗

Replication failure, genome instability, and increased cancer susceptibility in mice with a point mutation in the DNA ligase I gene.Semantic proximity Read ↗

A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.Semantic proximity Read ↗

DNA ligase IV is essential for V(D)J recombination and DNA double-strand break repair in human precursor lymphocytes.Semantic proximity Read ↗

Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficienciesSemantic proximity Read ↗

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