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Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures

2021-10-01

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Bloom syndrome (BS) is an autosomal recessive disease clinically characterized by primary microcephaly, growth deficiency, immunodeficiency, and predisposition to cancer. It is mainly caused by biallelic loss-of-function mutations in the BLM gene, which encodes the BLM helicase, acting in DNA replication and repair processes. Here, we describe the gene expression profiles of three BS fibroblast cell lines harbori...

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Literature Corpus work: 7f9a3b0e-6813-5e14-b129-3c25cb3d3d17
DOI: 10.1101/2021.10.01.462717

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Single-cell transcription profiles in Bloom syndrome patients link <i>BLM</i> deficiency with altered condensin complex expression signatures

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