Autosomal-Dominant Mode of Inheritance of a Melanocortin-4 Receptor Mutation in a Patient with Severe Early-Onset Obesity Is Due to a Dominant-Negative Effect Caused by Receptor Dimerization

Diabetes

Volumn 52, Issue 12, 2003, Pages 2984-2988

  Biebermann, Heike ^a   Krude, Heiko ^a   Elsner, Andrea ^a   Chubanov, Vladimir ^b   Gudermann, Thomas ^b   Grüters, Annette ^a  

^a HUMBOLDT UNIVERSITY   (Germany)

^b PHILIPPS UNIVERSITY MARBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MELANOCORTIN 4 RECEPTOR;

ARTICLE; CELL SURFACE; CONTROLLED STUDY; DIMERIZATION; DISEASE SEVERITY; ENZYME IMMUNOASSAY; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; OBESITY; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN EXPRESSION; SIGNAL TRANSDUCTION; WILD TYPE;

AGE OF ONSET; ANIMALS; CASE-CONTROL STUDIES; COHORT STUDIES; COS CELLS; DIMERIZATION; ENZYME-LINKED IMMUNOSORBENT ASSAY; FEMALE; FLUORESCENCE RESONANCE ENERGY TRANSFER; GENE FREQUENCY; GENES, DOMINANT; HETEROZYGOTE; HUMANS; INFANT; MUTATION; OBESITY; RECEPTOR, MELANOCORTIN, TYPE 4; SEVERITY OF ILLNESS INDEX; SIGNAL TRANSDUCTION; TRANSFECTION;

EID: 0344412889     PISSN: 00121797     EISSN: None     Source Type: Journal    
DOI: 10.2337/diabetes.52.12.2984     Document Type: Article

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