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

21 Nov 2014

Abstract excerpt

Inactivating germline mutations of the CDKN1B gene, encoding for the nuclear cyclin-dependent kinase inhibitor p27kip1 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 in vitro characterize the germline CDKN1B mutation c.374_375delCT (S125X) we detected in a patient with MEN4. The proband was...

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PMID: 25416039
DOI: 10.1530/ec-14-0116

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