Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome

BACKGROUND: The BUB 1 mitotic checkpoint serine/threonine kinase B (BUB1B) gene encodes a key protein in the mitotic spindle checkpoint, which acts as a surveillance mechanism, crucial for the maintenance of the correct chromosome number during cell deviation. Mutations of BUB1B gene are linked to m...

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Detalles Bibliográficos
Autores principales: Pavone, Piero, Pappalardo, Xena Giada, Mustafa, Naira, Falsaperla, Raffaele, Marino, Simona Domenica, Corsello, Giovanni, Bianca, Sebastiano, Parano, Enrico, Ruggieri, Martino
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9616775/
https://www.ncbi.nlm.nih.gov/pubmed/35804254
http://dx.doi.org/10.1007/s10072-022-06247-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9616775/
https://www.ncbi.nlm.nih.gov/pubmed/35804254
http://dx.doi.org/10.1007/s10072-022-06247-w

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