Genetic variants help define the role of the MC4R C-terminus in signaling and cell surface stability
Abstract Screening 92,445 subjects in the Geisinger-Regeneron DiscovEHR cohort, we identified 5 patients heterozygous for nonsense mutations causing early terminations at Glu307 or Leu328 on the C-terminus of melanocortin 4 receptor (MC4R). Two Q307Ter carriers are severely obese (BMI > 40), whil...
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| Auteurs principaux: | , |
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| Format: | article |
| Langue: | EN |
| Publié: |
Nature Portfolio
2018
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| Accès en ligne: | https://doaj.org/article/496ef38961674a63aa1c9134ecbad95c |
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