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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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Pubblicato in:Proc Natl Acad Sci U S A
Autori principali: Lehmann, Sylvia G., Lalli, Enzo, Sassone-Corsi, Paolo
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 2002
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Accesso 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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