Functional characterization of a rare germline mutation in the gene encoding the cyclin-dependent kinase inhibitor p27Kip1 (CDKN1B) in a Spanish patient with multiple endocrine neoplasia-like phenotype

European Journal of Endocrinology

Volumn 166, Issue 3, 2012, Pages 551-560

  Malanga, Donatella ^a,b   De Gisi, Silvia ^b   Riccardi, Miriam ^a,b   Scrima, Marianna ^b   De Marco, Carmela ^a,b   Robledo, Mercedes ^c   Viglietto, Giuseppe ^a,b  

^a UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^b Grande Ospedale Metropolitano   (Italy)

^c Structural Biology and Biocomputing Programme   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; GLYCINE; LUCIFERASE; MESSENGER RNA;

5' UNTRANSLATED REGION; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CYCLIN DEPENDENT KINASE INHIBITOR P27KIP1 GENE; DOWN REGULATION; EOSINOPHIL COUNT; ETHNIC GROUP; FEMALE; GENE DELETION; GENE FUNCTION; GENETIC CODE; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GERM LINE; HUMAN; HUMAN CELL; HYPERPARATHYROIDISM; IN VITRO STUDY; MALE; MULTIPLE ENDOCRINE NEOPLASIA; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; PREDICTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; REPORTER GENE; RIBOSOME; SPAIN; STOMACH CARCINOMA; TRANSCRIPTION REGULATION; TRANSIENT TRANSFECTION; TRANSLATION REGULATION; TUMOR GENE;

ADULT; AGED; BASE SEQUENCE; CYCLIN-DEPENDENT KINASE INHIBITOR P27; FEMALE; GERM-LINE MUTATION; HELA CELLS; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MULTIPLE ENDOCRINE NEOPLASIA TYPE 1; PHENOTYPE; SPAIN;

EID: 84857946496     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-11-0929     Document Type: Article

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