Cargando...
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...
Guardado en:
| Autores principales: | , , , , |
|---|---|
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
BioScientifica
2009
|
| Materias: | |
| Acceso en línea: | 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 |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|