A Heterozygous Mutation in the Third Transmembrane Domain Causes a Dominant-Negative Effect on Signalling Capability of the MC4R

BACKGROUND: Heterozygous MC4R mutation is the most frequent cause of monogenic obesity. For most MC4R mutations a gene dosage effect seems to be the underlying mechanism. However, a dominant negative effect of a heterozygous MC4R mutation was recently identified, pointing to an additional mechanism...

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Bibliografische gegevens
Gepubliceerd in:Obes Facts
Hoofdauteurs: Tarnow, Patrick, Rediger, Anne, Brumm, Harald, Ambrugger, Petra, Rettenbacher, Eva, Widhalm, Kurt, Hinney, Anke, Kleinau, Gunnar, Schaefer, Michael, Hebebrand, Johannes, Krause, Gerd, Grüters, Annette, Biebermann, Heike
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: S. Karger AG 2008
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Original Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6452123/
https://ncbi.nlm.nih.gov/pubmed/20054175
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000138251
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