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Genetic variants help define the role of the MC4R C-terminus in signaling and cell surface stability
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), while one is...
Gorde:
| Argitaratua izan da: | Sci Rep |
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| Egile Nagusiak: | , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Nature Publishing Group UK
2018
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6039487/ https://ncbi.nlm.nih.gov/pubmed/29991773 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-28758-3 |
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