The Common P450 Oxidoreductase Variant A503V Is Not a Modifier Gene for 21-Hydroxylase Deficiency

Context: 21-hydroxylase deficiency (21OHD) is a common genetic disorder caused by mutations in the CYP21A2 gene, which encodes the adrenal 21-hydroxylase, microsomal P450c21. CYP21A2 gene mutations generally correlate well with impaired P450c21 enzymatic activity and the clinical findings in 21OHD,...

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Bibliografski detalji
Glavni autori: Gomes, Larissa G., Huang, Ningwu, Agrawal, Vishal, Mendonça, Berenice B., Bachega, Tania A. S. S., Miller, Walter L.
Format: Artigo
Jezik:Inglês
Izdano: The Endocrine Society 2008
Teme:
Brief Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2453048/
https://ncbi.nlm.nih.gov/pubmed/18397975
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2008-0304
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