𝔖 Bobbio Scriptorium
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NR0B1A: an alternatively spliced form of NR0B1

✍ Scribed by John Ho; Yao-Hua Zhang; Bing-Ling Huang; Edward R.B. McCabe


Book ID
116987582
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
526 KB
Volume
83
Category
Article
ISSN
1096-7192

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Mutations in NR0B1 (DAX1) and NR5A1 (SF1
✍ James K. Phelan; Edward R.B. Mccabe πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 364 KB

Adrenal hypoplasia congenita (AHC) causes primary adrenal insufficiency due to the failure of development of the adrenal cortex. Clinical and pedigree data indicate that the condition is genetically heterogeneous. The predominant adrenal hypoplasia congenita locus, however, is the NR0B1 gene, at Xp2

Nine novel mutations in NR0B1 (DAX1) cau
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X-linked adrenal hypoplasia congenita (AHC) is caused by mutations in the NR0B1 gene. This gene encodes an orphan member of the nuclear receptor superfamily, DAX1. Ongoing efforts in our laboratory have identified nine novel NR0B1 mutations in X-linked AHC patients (Y81X, 343delG, 457delT, 629delG,