In silico structure-function analysis of pathological variation in the HSD11B2 gene sequence

11β-Hydroxysteroid dehydrogenase type 2 (11βHSD2) is a short-chain dehydrogenase/reductase (SDR) responsible for inactivating cortisol and preventing its binding to the mineralocorticoid receptor (MR). Nonfunctional mutations in HSD11B2, the gene encoding 11βHSD2, cause the hypertensive syndrome of...

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Hauptverfasser: Manning, Jonathan R., Bailey, Matthew A., Soares, Dinesh C., Dunbar, Donald R., Mullins, John J.
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Physiological Society 2010
Schlagworte:
Call for Papers: Functional Analysis of Sequence Variation
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2929884/
https://ncbi.nlm.nih.gov/pubmed/20571110
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/physiolgenomics.00053.2010
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