A novel germline CDKN1B mutation causing multiple endocrine tumors: Clinical, genetic and functional characterization

Human Mutation

Volumn 31, Issue 11, 2010, Pages

  Molatore, Sara ^a   Marinoni, Ilaria ^a   Lee, Misu ^a   Pulz, Elke ^a   Ambrosio, Maria Rosaria ^b   Uberti, Ettore C degli ^b   Zatelli, Maria Chiara ^b   Pellegata, Natalia S ^a  

^a INSTITUTE OF EPIDEMIOLOGY   (Germany)

^b UNIVERSITY OF FERRARA   (Italy)

Author keywords

CDKN1B; Functional characterization; Multiple endocrine neoplasia type 4; Mutation screening; P27

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 1B; PROTEIN P27; PROTEIN RET;

APOPTOSIS; CANCER SUSCEPTIBILITY; CDKN1B GENE; CELL STRAIN MCF 7; GENE; GERM LINE; HELA CELL; HETEROZYGOSITY LOSS; HUMAN; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; MULTIPLE ENDOCRINE NEOPLASIA; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NOTE; PHENOTYPE; PRIORITY JOURNAL; RNA INTERFERENCE;

AGED; CELL LINE; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; FEMALE; GENE KNOCKDOWN TECHNIQUES; GERM-LINE MUTATION; HELA CELLS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MULTIPLE ENDOCRINE NEOPLASIA; MULTIPLE ENDOCRINE NEOPLASIA TYPE 1; MUTAGENESIS, SITE-DIRECTED; MUTANT PROTEINS; PHENOTYPE; RECOMBINANT PROTEINS;

EID: 78049416704     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21354     Document Type: Note

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