Functional characterization of a CDKN1B mutation in a Sardinian kindred with multiple endocrine neoplasia type 4

Inactivating germline mutations of the CDKN1B gene encoding the nuclear cyclin-dependent kinase inhibitor P27(kip1) protein have been reported in patients with multiple endocrine neoplasia type 4 (MEN4), a MEN1-like phenotype without MEN1 mutations. The aim of this study was to characterize in vitro...

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Detalles Bibliográficos
Autores principales: Pardi, Elena, Mariotti, Stefano, Pellegata, Natalia S, Benfini, Katiuscia, Borsari, Simona, Saponaro, Federica, Torregrossa, Liborio, Cappai, Antonello, Satta, Chiara, Mastinu, Marco, Marcocci, Claudio, Cetani, Filomena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5713151/
https://www.ncbi.nlm.nih.gov/pubmed/25416039
http://dx.doi.org/10.1530/EC-14-0116

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