The effect of disease-associated HRPT2 mutations on splicing

Journal of Endocrinology

Volumn 201, Issue 3, 2009, Pages 387-396

  Hahn, Michael A ^a   McDonnell, Julie ^a   Marsh, Deborah J ^a  

^a UNIVERSITY OF SYDNEY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; PARAFIBROMIN; PROTEIN HRPT2; TUMOR SUPPRESSOR PROTEIN; UNCLASSIFIED DRUG; CDC73 PROTEIN, HUMAN;

ARTICLE; CARCINOGENESIS; COMPUTER PREDICTION; CONTROLLED STUDY; DATA ANALYSIS SOFTWARE; ENHANCER REGION; EXON; GENE DELETION; GENE DISRUPTION; GENE FUNCTION; GENE INSERTION; GENE LOCATION; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; INTRON; MISSENSE MUTATION; NONSENSE MUTATION; PARATHYROID CARCINOMA; PATHOGENICITY; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE ANALYSIS; SITE DIRECTED MUTAGENESIS; SPLICING DEFECT; WEB BROWSER; ALTERNATIVE RNA SPLICING; CARCINOMA; CELL CULTURE; GENETICS; HYPERPARATHYROIDISM; JAW TUMOR; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PARATHYROID TUMOR; PHYSIOLOGY; SYNDROME;

ALTERNATIVE SPLICING; BASE SEQUENCE; CARCINOMA; CELLS, CULTURED; ENHANCER ELEMENTS, GENETIC; EXONS; HUMANS; HYPERPARATHYROIDISM; JAW NEOPLASMS; MOLECULAR SEQUENCE DATA; MUTATION; PARATHYROID NEOPLASMS; RNA SPLICE SITES; SYNDROME; TUMOR SUPPRESSOR PROTEINS;

EID: 67849129006     PISSN: 00220795     EISSN: 14796805     Source Type: Journal    
DOI: 10.1677/JOE-09-0038     Document Type: Article

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