title: Novel human pathological mutations. Gene symbol: NR0B1. Disease: adrenal hypoplasia.
authors.affiliation: Pathology and Laboratory Medicine, All Children's Hospital, Saint Petersburg, USA. muellert@allkids.org
authors.forename: O Thomas
authors.initials: OT
authors.lastname: Mueller
authors.forename: A
authors.initials: A
authors.lastname: Coovadia
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics; D000309:Adrenal Insufficiency; D001483:Base Sequence; D002675:Child, Preschool; D003062:Codon / Q000235:genetics; D018389:Codon, Nonsense; D057137:DAX-1 Orphan Nuclear Receptor / Q000235:genetics*; D016368:Frameshift Mutation; D040181:Genetic Diseases, X-Linked / Q000235:genetics; D006801:Humans; D000075262:Hypoadrenocorticism, Familial; D008297:Male; D017384:Sequence Deletion
chemical_list: D003062:Codon; D018389:Codon, Nonsense; D057137:DAX-1 Orphan Nuclear Receptor; C539965:NR0B1 protein, human