Deletion of Codons 88-92 of the Melanocortin-4 Receptor Gene: A Novel Deleterious Mutation in an Obese Female

Journal of Clinical Endocrinology and Metabolism

Volumn 88, Issue 12, 2003, Pages 5841-5845

  Donohoue, Patricia A ^a,c   Tao, Ya Xiong ^a   Collins, Malia ^a   Yeo, Giles S H ^b   O'Rahilly, Stephen ^b   Segaloff, Deborah L ^a  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA INTERMEDIN; CYCLIC AMP; MELANOCORTIN 4 RECEPTOR; MUTANT PROTEIN;

ADULT; AGONIST; ARTICLE; CASE REPORT; CELL SURFACE; CLINICAL FEATURE; CODON; CONTROLLED STUDY; DELETION MUTANT; DISEASE ASSOCIATION; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY LOSS; HORMONE SUBSTITUTION; HUMAN; HUMAN CELL; IN FRAME DELETION MUTATION; LIGAND BINDING; OBESITY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SIGNAL TRANSDUCTION;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; BINDING, COMPETITIVE; CELL LINE; CODON; CYCLIC AMP; FEMALE; GENE DELETION; HUMANS; LIGANDS; MALE; MIDDLE AGED; MUTATION; OBESITY; RECEPTOR, MELANOCORTIN, TYPE 4;

EID: 0347993151     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2003-030903     Document Type: Article

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