Associated Papers
Germline RAD51B variants confer susceptibility to breast and ovarian cancers deficient in homologous recombination.
Setton J et al.
Npj Breast Cancer, 2021
Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach.
Alzahrani FA et al.
Scientific Reports, 2020
32704157 (PubMed )
Supplement: 41598_2020_69033_MOESM4_ESM.xlsx › cds_nonsense_SNP
A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility.
Perreault-Micale C et al.
Molecular Genetics & Genomic Medicine, 2015
A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members.
Ben Salah G et al.
Molecular Biology Reports, 2014
Escherichia coli RecG functionally suppresses human Bloom syndrome phenotypes.
Killen MW et al.
Bmc Molecular Biology, 2012
Loss of Bloom syndrome protein destabilizes human gene cluster architecture.
Killen MW et al.
Human Molecular Genetics, 2009
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.
German J et al.
Human Mutation, 2007
Clinical features of Bloom syndrome and function of the causative gene, BLM helicase.
Kaneko H et al.
Expert Review of Molecular Diagnostics, 2004
Structural basis of Bloom syndrome (BS) causing mutations in the BLM helicase domain.
Rong SB et al.
Molecular Medicine (cambridge, Mass.), 2000
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