A novel nonsense mutation in the Pit-1 gene: Evidence for a gene dosage effect

Journal of Clinical Endocrinology and Metabolism

Volumn 88, Issue 3, 2003, Pages 1241-1247

  Hashimoto, Yukiko ^a,c   Cisternino, Mariangela ^b   Cohen, Laurie E ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b UNIVERSITY OF PAVIA   (Italy)

^c GUNMA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; DNA BINDING PROTEIN; GENE PRODUCT; GLUCAGON; GLUCAGONE NOVO; GONADORELIN ACETATE; GROWTH HORMONE; GROWTH HORMONE RELEASING FACTOR RECEPTOR; PROLACTIN; PROTIRELIN; REFLACT; THYROTROPIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR POU; UNCLASSIFIED DRUG;

ADENOHYPOPHYSIS; ADOLESCENT; ALLELE; ALPHA HELIX; ARTICLE; CASE REPORT; CELL SPECIFICITY; CELL TYPE; DISEASE SEVERITY; DNA BINDING; ENDOCRINE DISEASE; FEMALE; GENE DOSAGE; GENE DUPLICATION; GENE EXPRESSION REGULATION; GENE FUNCTION; GENE MUTATION; GROWTH DISORDER; GROWTH HORMONE RELEASE; HOMOZYGOSITY; HORMONE DETERMINATION; HUMAN; HUMAN CELL; HYPOPHYSIS; HYPOPLASIA; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PIT1 GENE; PRIORITY JOURNAL; PROLACTIN RELEASE; PROTEIN DOMAIN; PROTEIN STRUCTURE; SOMATIC CELL; THYROTROPIN RELEASE; TRANSCRIPTION REGULATION;

CHILD; CODON, NONSENSE; DNA; DNA-BINDING PROTEINS; GENE DOSAGE; HUMAN GROWTH HORMONE; HUMANS; INFANT; PROLACTIN; PROMOTER REGIONS (GENETICS); TRANSCRIPTION FACTOR PIT-1; TRANSCRIPTION FACTORS;

EID: 0037342022     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2002-021510     Document Type: Article

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