A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members

2014/08/16 by Ghada Ben Salah, Ikhlas Hadj Salem, Abderrahmen Masmoudi +7 · 1 citation
Biochemistry, Genetics and Molecular Biology · #Allele #Biology #Bloom syndrome #CRISPR and Genetic Engineering #Carcinogens and Genotoxicity Assessment #Chromosome #DNA Repair Mechanisms #Frameshift mutation #Gene #Gene mutation #Genetics #Haplotype #Helicase #Locus (genetics) #Microsatellite #Molecular biology #Mutation #Sister chromatids

paper · doi:10.1007/s11033-014-3624-5

openalex publication_date 2014/08/16 · crossref created 2014/08/16 · crossref issued 2014/08/17 · crossref published 2014/08/17 · crossref published-online 2014/08/17 · crossref published-print 2014/11/01 · crossref deposited 2019/06/01 · openalex created_date 2025/10/10 · crossref indexed 2025/12/09 · openalex updated_date 2026/08/05

Citations

• Evaluation of Short Stature, Carbohydrate Metabolism and Other Endocrinopathies in Bloom’s Syndrome
• Syndrome-causing mutations of theBLMgene in persons in the Bloom's Syndrome Registry

Cited by

• Bloom syndrome [wikipedia]