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A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets.
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 남지선 | - |
dc.contributor.author | 송재우 | - |
dc.contributor.author | 양규현 | - |
dc.contributor.author | 이경아 | - |
dc.contributor.author | 최종락 | - |
dc.date.accessioned | 2015-04-24T16:35:07Z | - |
dc.date.available | 2015-04-24T16:35:07Z | - |
dc.date.issued | 2009 | - |
dc.identifier.issn | 0091-7370 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/103790 | - |
dc.description.abstract | Mutations 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.statementOfResponsibility | open | - |
dc.format.extent | 182~187 | - |
dc.relation.isPartOf | ANNALS OF CLINICAL AND LABORATORY SCIENCE | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Adult | - |
dc.subject.MESH | Chromosomes, Human, X* | - |
dc.subject.MESH | Codon/genetics | - |
dc.subject.MESH | DNA/blood | - |
dc.subject.MESH | DNA/genetics | - |
dc.subject.MESH | DNA/isolation & purification | - |
dc.subject.MESH | Exons | - |
dc.subject.MESH | Familial Hypophosphatemic Rickets/genetics* | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Fibula | - |
dc.subject.MESH | Fractures, Bone/genetics | - |
dc.subject.MESH | Genetic Diseases, X-Linked* | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Introns | - |
dc.subject.MESH | Mutation | - |
dc.subject.MESH | PHEX Phosphate Regulating Neutral Endopeptidase/genetics* | - |
dc.subject.MESH | Periodontal Abscess/genetics | - |
dc.subject.MESH | Tibial Fractures/genetics | - |
dc.title | A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets. | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Orthopedic Surgery (정형외과학) | - |
dc.contributor.googleauthor | Juwon Kim | - |
dc.contributor.googleauthor | Kyu Hyun Yang | - |
dc.contributor.googleauthor | Ji Sun Nam | - |
dc.contributor.googleauthor | Jong Rak Choi | - |
dc.contributor.googleauthor | Jaewoo Song | - |
dc.contributor.googleauthor | Myungsook Chang | - |
dc.contributor.googleauthor | Kyung-A Lee | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A01268 | - |
dc.contributor.localId | A02054 | - |
dc.contributor.localId | A02282 | - |
dc.contributor.localId | A02647 | - |
dc.contributor.localId | A04182 | - |
dc.relation.journalcode | J00155 | - |
dc.identifier.eissn | 1550-8080 | - |
dc.identifier.pmid | 19429806 | - |
dc.identifier.url | http://www.annclinlabsci.org/content/39/2/182.long | - |
dc.subject.keyword | phosphate regulating gene | - |
dc.subject.keyword | PHEX mutations | - |
dc.subject.keyword | X-chromosome | - |
dc.subject.keyword | hypophosphatemic rickets | - |
dc.contributor.alternativeName | Nam, Ji Sun | - |
dc.contributor.alternativeName | Song, Jae Woo | - |
dc.contributor.alternativeName | Yang, Kyu Hyun | - |
dc.contributor.alternativeName | Lee, Kyung A | - |
dc.contributor.alternativeName | Choi, Jong Rak | - |
dc.contributor.affiliatedAuthor | Nam, Ji Sun | - |
dc.contributor.affiliatedAuthor | Song, Jae Woo | - |
dc.contributor.affiliatedAuthor | Yang, Kyu Hyun | - |
dc.contributor.affiliatedAuthor | Lee, Kyung A | - |
dc.contributor.affiliatedAuthor | Choi, Jong Rak | - |
dc.citation.volume | 39 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 182 | - |
dc.citation.endPage | 187 | - |
dc.identifier.bibliographicCitation | ANNALS OF CLINICAL AND LABORATORY SCIENCE, Vol.39(2) : 182-187, 2009 | - |
dc.identifier.rimsid | 36694 | - |
dc.type.rims | ART | - |
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