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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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| Publicado en: | Int J Mol Sci |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
MDPI
2020
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| Assuntos: | |
| Acceso en liña: | 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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