title: A novel missense mutation in NR0B1 causes delayed-onset primary adrenal insufficiency in adults.
abstract: A novel missense mutation (c.775T>C; p.ser259Pro) in the NROBI gene cause a late-onset adrenal insufficiency without hypogonadism.
authors.affiliation: Department of Internal Medicine, CHA Bundang Medical Center, School of Medicine CHA University, Seongnam, Korea.
authors.forename: C-M
authors.identifier: http://orcid.org/0000-0001-5066-4663
authors.initials: CM
authors.lastname: Oh
authors.affiliation: Department of Internal Medicine, CHA Bundang Medical Center, School of Medicine CHA University, Seongnam, Korea.
authors.forename: S
authors.initials: S
authors.lastname: Chun
authors.affiliation: Department of Internal Medicine, Seoul National University Bundang Hospital, Seoul, Korea.
authors.forename: J-E
authors.initials: JE
authors.lastname: Lee
authors.affiliation: Department of Pharmacology, Brain Korea 21 Project for Medical Sciences, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: J S
authors.initials: JS
authors.lastname: Lee
authors.affiliation: Department of Biochemistry, College of Medicine, Catholic Kwandong University, Gangneung, Korea.
authors.forename: S
authors.initials: S
authors.lastname: Park
authors.affiliation: Department of Pharmacology, Brain Korea 21 Project for Medical Sciences, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: H Y
authors.initials: HY
authors.lastname: Gee
authors.affiliation: Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea.|Department of Internal Medicine, Boramae Medical Center, Seoul, Korea.
authors.forename: S W
authors.initials: SW
authors.lastname: Kim
mesh_terms: D000309:Adrenal Insufficiency / Q000175:diagnosis* / Q000235:genetics*; D000328:Adult; D017668:Age of Onset; D000483:Alleles; D019943:Amino Acid Substitution; D015415:Biomarkers; D057137:DAX-1 Orphan Nuclear Receptor / Q000737:chemistry / Q000235:genetics*; D056726:Genetic Association Studies; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D008958:Models, Molecular; D020125:Mutation, Missense; D010375:Pedigree; D011487:Protein Conformation; D000073359:Exome Sequencing
chemical_list: D015415:Biomarkers; D057137:DAX-1 Orphan Nuclear Receptor; C539965:NR0B1 protein, human