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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Lehmann, Sylvia G., Lalli, Enzo, Sassone-Corsi, Paolo
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: The National Academy of Sciences 2002
Gaiak:
Sarrera elektronikoa: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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