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...
Zapisane w:
| Wydane w: | Proc Natl Acad Sci U S A |
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| Główni autorzy: | , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
National Academy of Sciences
2002
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC123049/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/12034880/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.122044099 |
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