Novel human pathological mutations. Gene symbol: NR0B1. Disease: adrenal hypoplasia

Hum Genet. 2010 Apr;127(4):473.
No abstract available

MeSH terms

  • Adrenal Hyperplasia, Congenital / genetics
  • Adrenal Insufficiency
  • Base Sequence
  • Child, Preschool
  • Codon / genetics
  • Codon, Nonsense
  • DAX-1 Orphan Nuclear Receptor / genetics*
  • Frameshift Mutation
  • Genetic Diseases, X-Linked / genetics
  • Humans
  • Hypoadrenocorticism, Familial
  • Male
  • Sequence Deletion

Substances

  • Codon
  • Codon, Nonsense
  • DAX-1 Orphan Nuclear Receptor
  • NR0B1 protein, human