In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant

Classical congenital adrenal hyperplasia (CAH) caused by pathogenic variants in the steroid 21-hydroxylase gene (CYP21A2) is a severe life-threatening condition. We present a detailed investigation of the molecular and functional characteristics of a novel pathogenic variant in this gene. The patien...

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Bibliografske podrobnosti
izdano v:Int J Mol Sci
Main Authors: Cohen, Michal, Pignatti, Emanuele, Dines, Monica, Mory, Adi, Ekhilevitch, Nina, Kolodny, Rachel, Flück, Christa E., Tiosano, Dov
Format: Artigo
Jezik:Inglês
Izdano: MDPI 2020
Teme:
Communication
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7461554/
https://ncbi.nlm.nih.gov/pubmed/32824094
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21165857
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