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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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Bibliografische gegevens
Gepubliceerd in:Proc Natl Acad Sci U S A
Hoofdauteurs: Pascoe, L, Curnow, K M, Slutsker, L, Rösler, A, White, P C
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: National Academy of Sciences 1992
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Online toegang: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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