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Article

The Bloom's syndrome gene product is homologous to RecQ helicases.

Cell - 17 Nov 1995

Ellis N A, Groden J, Ye T Z, Straughen J, Lennon D J, Ciocci S, Proytcheva M, German J

Abstract excerpt

The Bloom's syndrome (BS) gene, BLM, plays an important role in the maintenance of genomic stability in somatic cells. A candidate for BLM was identified by direct selection of a cDNA derived from a 250 kb segment of the genome to which BLM had been assigned by somatic crossover point mapping. In...

Topics

Adenosine Triphosphatases
Amino Acid Sequence
Base Sequence
Bloom Syndrome
Cells, Cultured
Cloning, Molecular
DNA
DNA Helicases
Humans
Molecular Sequence Data
Mutation
RNA
RecQ Helicases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sequence Homology, Nucleic Acid

Source

Identifiers

PMID: 7585968
DOI: 10.1016/0092-8674(95)90105-1

Genes

BLM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7585968-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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The Bloom's syndrome gene product is homologous to RecQ helicases.PMID 7585968Read ↗

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

[Bloom syndrome].Semantic proximity Read ↗

Clinical features of Bloom syndrome and function of the causative gene, BLM helicaseSemantic 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 ↗

Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.Semantic proximity Read ↗

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

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

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

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

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

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