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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.
Full Text
https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.12966
DOI
10.1111/cge.12966
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers
Yonsei Authors
Gee, Heon Yung(지헌영) ORCID logo https://orcid.org/0000-0002-8741-6177
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/161760
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