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Article

Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome.

Human molecular genetics - 1 Sept 1997

Foucault F, Vaury C, Barakat A, Thibout D, Planchon P, Jaulin C, Praz F, Amor-Guéret M

Abstract excerpt

Bloom's syndrome (BS), a human recessive disorder associated with an increased risk of malignancy, arises through mutations in both alleles of the BLM gene, which was recently identified as a member of the RecQ helicase family. BS cells are characterized by an increased rate of sister chromatid exchange (SCE). However, a subpopulation of lymphocytes exhibiting a normal level of SCE is observed in some patients....

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Source

Identifiers

PMID: 9285778
DOI: 10.1093/hmg/6.9.1427

Genes

BLM

Provenance

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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome.PMID 9285778Read ↗

A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members.Semantic proximity Read ↗

Chromosomal instability associated with a novel BLM frameshift mutation (c.1980-1982delAA) in two unrelated Tunisian families with Bloom syndrome.Semantic proximity Read ↗

Molecular genetics of Bloom's syndrome.Semantic proximity Read ↗

Three new BLM gene mutations associated with Bloom syndrome.Semantic proximity Read ↗

Evidence for BLM and Topoisomerase IIIalpha interaction in genomic stability.Semantic proximity Read ↗

Genomic instability and cancer: lessons from analysis of Bloom's syndrome.Semantic proximity Read ↗

The Bloom's syndrome gene product is homologous to RecQ helicases.Semantic proximity Read ↗

The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells.Semantic proximity Read ↗

Role of the Bloom's syndrome helicase in maintenance of genome stability.Semantic proximity Read ↗

Bloom syndrome and the underlying causes of genetic instability.Semantic proximity Read ↗

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Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo-exon activation in the BLM gene.Semantic proximity Read ↗

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