Thioredoxin Reductase 2 (TXNRD2) Mutation Associated With Familial Glucocorticoid Deficiency (FGD)

CONTEXT: Classic ACTH resistance, due to disruption of ACTH signaling, accounts for the majority of cases of familial glucocorticoid deficiency (FGD). Recently FGD cases caused by mutations in the mitochondrial antioxidant, nicotinamide nucleotide transhydrogenase, have highlighted the importance of...

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Main Authors: Prasad, Rathi, Chan, Li F., Hughes, Claire R., Kaski, Juan P., Kowalczyk, Julia C., Savage, Martin O., Peters, Catherine J., Nathwani, Nisha, Clark, Adrian J. L., Storr, Helen L., Metherell, Louise A.
格式: Artigo
語言:Inglês
出版: Endocrine Society 2014
主題:
JCEM Online: Advances in Genetics
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4207928/
https://ncbi.nlm.nih.gov/pubmed/24601690
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2013-3844
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