YUHSpace

BROWSE

Export
0 541

Cited 8 times in

A novel missense mutation in NR0B1 causes delayed-onset primary adrenal insufficiency in adults

DC Field Value Language
dc.contributor.author지헌영-
dc.date.accessioned2018-07-20T12:05:24Z-
dc.date.available2018-07-20T12:05:24Z-
dc.date.issued2017-
dc.identifier.issn0009-9163-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/161760-
dc.description.abstractA novel missense mutation (c.775T>C; p.ser259Pro) in the NROBI gene cause a late-onset adrenal insufficiency without hypogonadism.-
dc.description.statementOfResponsibilityrestriction-
dc.languageEnglish-
dc.publisherMunksgaard-
dc.relation.isPartOfCLINICAL GENETICS-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAdrenal Insufficiency/diagnosis*-
dc.subject.MESHAdrenal Insufficiency/genetics*-
dc.subject.MESHAdult-
dc.subject.MESHAge of Onset-
dc.subject.MESHAlleles-
dc.subject.MESHAmino Acid Substitution-
dc.subject.MESHBiomarkers-
dc.subject.MESHDAX-1 Orphan Nuclear Receptor/chemistry-
dc.subject.MESHDAX-1 Orphan Nuclear Receptor/genetics*-
dc.subject.MESHGenetic Association Studies*-
dc.subject.MESHGenetic Diseases, X-Linked/diagnosis-
dc.subject.MESHGenetic Diseases, X-Linked/genetics-
dc.subject.MESHGenotype-
dc.subject.MESHHumans-
dc.subject.MESHMale-
dc.subject.MESHModels, Molecular-
dc.subject.MESHMutation, Missense*-
dc.subject.MESHPedigree-
dc.subject.MESHProtein Conformation-
dc.subject.MESHWhole Exome Sequencing-
dc.titleA novel missense mutation in NR0B1 causes delayed-onset primary adrenal insufficiency in adults-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine-
dc.contributor.departmentDept. of Pharmacology-
dc.contributor.googleauthorC.‐M. Oh-
dc.contributor.googleauthorS. Chun-
dc.contributor.googleauthorJ.‐E. Lee-
dc.contributor.googleauthorJ.S. Lee-
dc.contributor.googleauthorS. Park-
dc.contributor.googleauthorH.Y. Gee-
dc.contributor.googleauthorS.W. Kim-
dc.identifier.doi10.1111/cge.12966-
dc.contributor.localIdA03971-
dc.relation.journalcodeJ00574-
dc.identifier.eissn1399-0004-
dc.identifier.pmid28075027-
dc.identifier.urlhttps://onlinelibrary.wiley.com/doi/abs/10.1111/cge.12966-
dc.contributor.alternativeNameGee, Heon Yung-
dc.contributor.affiliatedAuthorGee, Heon Yung-
dc.citation.volume92-
dc.citation.number3-
dc.citation.startPage344-
dc.citation.endPage346-
dc.identifier.bibliographicCitationCLINICAL GENETICS, Vol.92(3) : 344-346, 2017-
dc.identifier.rimsid59375-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers
Show simple item record Find it @ YMLIB

qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

  • License
    sherpa_romeo
    sherpa_juliet

OAK

DSpace Software Copyright © 2002-2017 Duraspace Yonsei University Medical Library All right Reserves. / TEL:02-2228-2915 /
YUHSpace는 국립중앙도서관 OAK 보급사업으로 구축되었습니다.

Browse

Links