Hirsch, Andrea; Meimaridou, Eirini; Fernandez-Cancio, Monica; Pandey, Amit V; Clemente, María; Audi, Laura; Clark, Adrian J L; Flück, Christa E (2011). Loss of the C terminus of melanocortin receptor 2 (MC2R) results in impaired cell surface expression and ACTH insensitivity. Journal of clinical endocrinology and metabolism, 96(1), E65-72. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2010-1056
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Mutations in melanocortin receptor 2 (MC2R) and its related melanocortin receptor accessory protein (MRAP) cause familial glucocorticoid deficiency. We identified a novel MC2R mutation, K289fs. This unique mutation in the C terminus of MC2R is located in the intracellular part of the protein for which the exact function is unknown.
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine > Endocrinology/Metabolic Disorders |
UniBE Contributor: |
Hirsch, Andrea, Pandey, Amit Vikram, Flück Pandey, Christa Emma |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
0021-972X |
Publisher: |
Endocrine Society |
Language: |
English |
Submitter: |
Amit Vikram Pandey |
Date Deposited: |
04 Oct 2013 14:13 |
Last Modified: |
12 Oct 2023 12:34 |
Publisher DOI: |
10.1210/jc.2010-1056 |
PubMed ID: |
20962024 |
Web of Science ID: |
000288185400008 |
BORIS DOI: |
10.48350/2819 |
URI: |
https://boris.unibe.ch/id/eprint/2819 (FactScience: 205736) |
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