Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency.
Corticosterone methyloxidase II (CMO-II) deficiency is an autosomal recessive disorder of aldosterone biosynthesis, characterized by an elevated ratio of 18-hydroxycorticosterone to aldosterone in serum. It is genetically linked to the CYP11B1 and CYP11B2 genes that, respectively, encode two cytochr...
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| Veröffentlicht in: | Proc Natl Acad Sci U S A |
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| Hauptverfasser: | , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
National Academy of Sciences
1992
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| Schlagworte: | |
| Online-Zugang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC49215/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1594605/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.89.11.4996 |
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