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

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 replica...

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Detalles Bibliográficos
Autores principales: Gönenc, Ipek Ilgin, Wolff, Alexander, Schmidt, Julia, Zibat, Arne, Müller, Christian, Cyganek, Lukas, Argyriou, Loukas, Räschle, Markus, Yigit, Gökhan, Wollnik, Bernd
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9262399/
https://www.ncbi.nlm.nih.gov/pubmed/35099000
http://dx.doi.org/10.1093/hmg/ddab373

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