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A novel missense mutation in NR0B1 causes delayed-onset primary adrenal insufficiency in adults
- Authors
- C.‐M. Oh ; S. Chun ; J.‐E. Lee ; J.S. Lee ; S. Park ; H.Y. Gee ; S.W. Kim
- Citation
- CLINICAL GENETICS, Vol.92(3) : 344-346, 2017
- Journal Title
- CLINICAL GENETICS
- ISSN
- 0009-9163
- Issue Date
- 2017
- MeSH
- Adrenal Insufficiency/diagnosis* ; Adrenal Insufficiency/genetics* ; Adult ; Age of Onset ; Alleles ; Amino Acid Substitution ; Biomarkers ; DAX-1 Orphan Nuclear Receptor/chemistry ; DAX-1 Orphan Nuclear Receptor/genetics* ; Genetic Association Studies* ; Genetic Diseases, X-Linked/diagnosis ; Genetic Diseases, X-Linked/genetics ; Genotype ; Humans ; Male ; Models, Molecular ; Mutation, Missense* ; Pedigree ; Protein Conformation ; Whole Exome Sequencing
- Abstract
- A novel missense mutation (c.775T>C; p.ser259Pro) in the NROBI gene cause a late-onset adrenal insufficiency without hypogonadism.
- Appears in Collections:
- 1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers
- Yonsei Authors
-
Gee, Heon Yung(지헌영)
https://orcid.org/0000-0002-8741-6177
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