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Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations
CONTEXT: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease, characterised by isolated glucocorticoid deficiency in the absence of mineralocorticoid deficiency. Inactivating mutations in the ACTH receptor (melanocortin-2-receptor, MC2R) are well described and account for...
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| Autors principals: | , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioScientifica
2009
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2754377/ https://ncbi.nlm.nih.gov/pubmed/19151134 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EJE-08-0636 |
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