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Familial Glucocorticoid Receptor Haploinsufficiency by Non-Sense Mediated mRNA Decay, Adrenal Hyperplasia and Apparent Mineralocorticoid Excess
Primary glucocorticoid resistance (OMIM 138040) is a rare hereditary disease that causes a generalized partial insensitivity to glucocorticoid action, due to genetic alterations of the glucocorticoid receptor (GR). Investigation of adrenal incidentalomas led to the discovery of a family (eight affec...
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Main Authors: | , , , , , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Public Library of Science
2010
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2962642/ https://ncbi.nlm.nih.gov/pubmed/21042587 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0013563 |
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