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Article

Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.

Human mutation - 1 Aug 2007

German James, Sanz Maureen M, Ciocci Susan, Ye Tian Z, Ellis Nathan A

Abstract excerpt

Bloom syndrome (BS) is caused by homozygous or compound heterozygous mutations in the RecQ DNA helicase gene BLM. Since the molecular isolation of BLM, characterization of BS-causing mutations has been carried out systematically using samples stored in the Bloom's Syndrome Registry. In a survey of 134 persons with BS from the Registry, 64 different mutations were identified in 125 of them, 54 that cause premature...

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Identifiers

PMID: 17407155
DOI: 10.1002/humu.20501

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.

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