Nonsense variant of NR0B1 causes hormone disorders associated with congenital adrenal hyperplasia
Abstract Congenital adrenal hyperplasia (CAH) is a rare X-linked recessive inherited disease that is considered a major cause of steroidogenesis disorder and is associated with variants or complete deletion of the NR0B1 gene. The DAX-1 protein (encoded by NR0B1) is a vertebrate-specific orphan nucle...
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| Autores principales: | , , |
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| Formato: | article |
| Lenguaje: | EN |
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Nature Portfolio
2021
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| Acceso en línea: | https://doaj.org/article/6a24628dea284e3da8b691e734e75629 |
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