טוען...
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...
שמור ב:
| Main Authors: | , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
BioScientifica
2009
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| נושאים: | |
| גישה מקוונת: | 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 |
| תגים: |
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