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X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein
Mutations in the DAX-1 [dosage-sensitive sex reversal–adrenal hypoplasia congenita (AHC) critical region on the X chromosome; NR0B1] gene cause X-linked AHC associated with hypogonadotropic hypogonadism. DAX-1 encodes an unusual orphan member of the nuclear hormone receptor superfamily, acting as a...
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| Hauptverfasser: | , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
The National Academy of Sciences
2002
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC123049/ https://ncbi.nlm.nih.gov/pubmed/12034880 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.122044099 |
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