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Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation

Mutations in the gene encoding Lamin B receptor (LBR), a nuclear-membrane protein with sterol reductase activity, have been linked to rare human disorders. Phenotypes range from a benign blood disorder, such as Pelger-Huet anomaly (PHA), affecting the morphology and chromatin organization of white b...

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Detalles Bibliográficos
Autores principales: Young, Alexander Neil, Perlas, Emerald, Ruiz-Blanes, Nerea, Hierholzer, Andreas, Pomella, Nicola, Martin-Martin, Belen, Liverziani, Alessandra, Jachowicz, Joanna W., Giannakouros, Thomas, Cerase, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8041748/
https://www.ncbi.nlm.nih.gov/pubmed/33846535
http://dx.doi.org/10.1038/s42003-021-01944-2