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A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets.

DC Field Value Language
dc.contributor.author남지선-
dc.contributor.author송재우-
dc.contributor.author양규현-
dc.contributor.author이경아-
dc.contributor.author최종락-
dc.date.accessioned2015-04-24T16:35:07Z-
dc.date.available2015-04-24T16:35:07Z-
dc.date.issued2009-
dc.identifier.issn0091-7370-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/103790-
dc.description.abstractMutations including nonsense mutations, missense mutations, splicing-site mutations, insertions, and deletions in phosphate regulating genes on the X-chromosome (PHEX) are known to be responsible for X-linked hypophosphatemic rickets. The PHEX gene encodes an endopeptidase that is involved in phosphate regulation. Herein we present a female patient with sporadic hypophosphatemic rickets harboring a novel deletion mutation (c.1586_1586+1delAG; p.Glu529GlyfsX41) at exon 14 and intron 14 junction, which caused a premature termination at codon 569 and possibly produced a truncated PHEX protein. The laboratory and radiologic findings of the patient are reviewed to correlate the impact of the two-base deletion mutations at the exon-intron junction.-
dc.description.statementOfResponsibilityopen-
dc.format.extent182~187-
dc.relation.isPartOfANNALS OF CLINICAL AND LABORATORY SCIENCE-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAdult-
dc.subject.MESHChromosomes, Human, X*-
dc.subject.MESHCodon/genetics-
dc.subject.MESHDNA/blood-
dc.subject.MESHDNA/genetics-
dc.subject.MESHDNA/isolation & purification-
dc.subject.MESHExons-
dc.subject.MESHFamilial Hypophosphatemic Rickets/genetics*-
dc.subject.MESHFemale-
dc.subject.MESHFibula-
dc.subject.MESHFractures, Bone/genetics-
dc.subject.MESHGenetic Diseases, X-Linked*-
dc.subject.MESHHumans-
dc.subject.MESHIntrons-
dc.subject.MESHMutation-
dc.subject.MESHPHEX Phosphate Regulating Neutral Endopeptidase/genetics*-
dc.subject.MESHPeriodontal Abscess/genetics-
dc.subject.MESHTibial Fractures/genetics-
dc.titleA novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets.-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Orthopedic Surgery (정형외과학)-
dc.contributor.googleauthorJuwon Kim-
dc.contributor.googleauthorKyu Hyun Yang-
dc.contributor.googleauthorJi Sun Nam-
dc.contributor.googleauthorJong Rak Choi-
dc.contributor.googleauthorJaewoo Song-
dc.contributor.googleauthorMyungsook Chang-
dc.contributor.googleauthorKyung-A Lee-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA01268-
dc.contributor.localIdA02054-
dc.contributor.localIdA02282-
dc.contributor.localIdA02647-
dc.contributor.localIdA04182-
dc.relation.journalcodeJ00155-
dc.identifier.eissn1550-8080-
dc.identifier.pmid19429806-
dc.identifier.urlhttp://www.annclinlabsci.org/content/39/2/182.long-
dc.subject.keywordphosphate regulating gene-
dc.subject.keywordPHEX mutations-
dc.subject.keywordX-chromosome-
dc.subject.keywordhypophosphatemic rickets-
dc.contributor.alternativeNameNam, Ji Sun-
dc.contributor.alternativeNameSong, Jae Woo-
dc.contributor.alternativeNameYang, Kyu Hyun-
dc.contributor.alternativeNameLee, Kyung A-
dc.contributor.alternativeNameChoi, Jong Rak-
dc.contributor.affiliatedAuthorNam, Ji Sun-
dc.contributor.affiliatedAuthorSong, Jae Woo-
dc.contributor.affiliatedAuthorYang, Kyu Hyun-
dc.contributor.affiliatedAuthorLee, Kyung A-
dc.contributor.affiliatedAuthorChoi, Jong Rak-
dc.citation.volume39-
dc.citation.number2-
dc.citation.startPage182-
dc.citation.endPage187-
dc.identifier.bibliographicCitationANNALS OF CLINICAL AND LABORATORY SCIENCE, Vol.39(2) : 182-187, 2009-
dc.identifier.rimsid36694-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Orthopedic Surgery (정형외과학교실) > 1. Journal Papers

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