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Autosomal Recessive Polycystic Kidney Disease Confirmed to PKHD1 Gene Mutation: A Case of PKHD1 Gene Mutation

DC Field Value Language
dc.contributor.author박국인-
dc.contributor.author박민수-
dc.contributor.author백재은-
dc.contributor.author은호선-
dc.contributor.author이순민-
dc.contributor.author이철-
dc.contributor.author남궁란-
dc.date.accessioned2015-12-28T11:00:46Z-
dc.date.available2015-12-28T11:00:46Z-
dc.date.issued2014-
dc.identifier.issn2287-9412-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/138504-
dc.description.abstractAutosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease that is characterized by enlarged kidneys and congenital hepatic fibrosis. The clinical spectrum of this condition shows wide variation. Approximately 30-50% of affected individuals die in the neonatal period, while others survive into adulthood. ARPKD is caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene on chromosome 6p12, which consists of 86 exons variably assembled into many alternatively spliced transcripts. We report a case of a pathogenic PKHD1 frameshift mutation, c.889_931del43, which was identified using direct full sequencing, associated with enlarged cystic kidneys and dilatation of intrahepatic bile duct, as observed on imaging studies.-
dc.description.statementOfResponsibilityopen-
dc.format.extent64~68-
dc.relation.isPartOfNeonatal Medicine-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.titleAutosomal Recessive Polycystic Kidney Disease Confirmed to PKHD1 Gene Mutation: A Case of PKHD1 Gene Mutation-
dc.title.alternative유전자 돌연변이로 확진된 상염색체 열성 다낭신질환 신생아 1례-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Pediatrics (소아과학)-
dc.contributor.googleauthorJae Eun Baek-
dc.contributor.googleauthorSoon Min Lee-
dc.contributor.googleauthorHo Seon Eun-
dc.contributor.googleauthorMin Soo Park-
dc.contributor.googleauthorKook In Park-
dc.contributor.googleauthorRan Namgung-
dc.contributor.googleauthorChul Lee-
dc.identifier.doi10.5385/nm.2014.21.1.64-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA01438-
dc.contributor.localIdA01468-
dc.contributor.localIdA01835-
dc.contributor.localIdA02635-
dc.contributor.localIdA02905-
dc.contributor.localIdA03253-
dc.contributor.localIdA01241-
dc.relation.journalcodeJ02310-
dc.subject.keywordAutosomal recessive polycystic kidney disease-
dc.subject.keywordARPKD-
dc.subject.keywordPKHD1-
dc.contributor.alternativeNamePark, Kook In-
dc.contributor.alternativeNamePark, Min Soo-
dc.contributor.alternativeNameBaek, Jae Eun-
dc.contributor.alternativeNameEun, Ho Seon-
dc.contributor.alternativeNameLee, Soon Min-
dc.contributor.alternativeNameLee, Chul-
dc.contributor.alternativeNameNamgung, Ran-
dc.contributor.affiliatedAuthorPark, Kook In-
dc.contributor.affiliatedAuthorPark, Min Soo-
dc.contributor.affiliatedAuthorBaek, Jae Eun-
dc.contributor.affiliatedAuthorEun, Ho Seon-
dc.contributor.affiliatedAuthorLee, Soon Min-
dc.contributor.affiliatedAuthorLee, Chul-
dc.contributor.affiliatedAuthorNamgung, Ran-
dc.citation.volume21-
dc.citation.number1-
dc.citation.startPage64-
dc.citation.endPage68-
dc.identifier.bibliographicCitationNeonatal Medicine, Vol.21(1) : 64-68, 2014-
dc.identifier.rimsid45356-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers

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