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Article

Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase.

Proceedings of the National Academy of Sciences of the United States of America - 20 Nov 2012

Mirzaei Hamed, Schmidt Kristina H

Abstract excerpt

Bloom syndrome (BS) is an autosomal recessive disorder caused by mutations in the RecQ-like DNA helicase BLM, which functions in the maintenance of genome stability. Using a humanized model of Saccharomyces cerevisiae that expresses a chimera of the N terminus of yeast Sgs1 and the C terminus of human BLM from the chromosomal SGS1 locus, we have functionally evaluated 27 BLM alleles that are not currently known...

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Source

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Identifiers

PMID: 23129629
DOI: 10.1073/pnas.1210304109
PMCID: PMC3511070

Genes

BLM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase.PMID 23129629Read ↗

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