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The H723R mutation in the PDS/SLC26A4 gene is associated with typical pendred syndrome in korean patients

DC FieldValueLanguage
dc.contributor.author강은석-
dc.contributor.author김경래-
dc.contributor.author안철우-
dc.contributor.author이유미-
dc.contributor.author이은직-
dc.contributor.author임승길-
dc.contributor.author차봉수-
dc.date.accessioned2015-06-10T12:52:48Z-
dc.date.available2015-06-10T12:52:48Z-
dc.date.issued2006-
dc.identifier.issn1355-008X-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/110613-
dc.description.abstractInherited as an autosomal recessive trait, Pendred syndrome is a disease that shows congenital sensorineural hearing loss and goiter, with a positive finding in the perchlorate discharge test. Pendred syndrome results from various mutations in the PDS/SLC26A4 gene that cause production of an abnormal pendrin protein. More than 90 mutations in the PDS/SLC26A4 gene have been reported throughout the world. A recent study of 26 Korean patients with a relatively high frequency (65%) of a mutated PDS/SLC26A4 gene exhibited non-syndromic deafness and an enlarged vestibular aqueduct. We report two patients with characteristics of typical Pendred syndrome, a 26-yr-old female and a 61-yr-old male, who were both homozygous for a previously reported missense mutation, H723R (Histidine 723 Arginine) in the PDS/SLC26A4 gene.-
dc.description.statementOfResponsibilityopen-
dc.format.extent237~243-
dc.relation.isPartOfENDOCRINE-
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.MESHDNA Mutational Analysis-
dc.subject.MESHFemale-
dc.subject.MESHGoiter/congenital*-
dc.subject.MESHGoiter/diagnostic imaging-
dc.subject.MESHGoiter/genetics*-
dc.subject.MESHHearing Loss, Sensorineural/congenital*-
dc.subject.MESHHearing Loss, Sensorineural/genetics*-
dc.subject.MESHHumans-
dc.subject.MESHKorea-
dc.subject.MESHMale-
dc.subject.MESHMembrane Transport Proteins/genetics*-
dc.subject.MESHMiddle Aged-
dc.subject.MESHMutation-
dc.subject.MESHPedigree-
dc.subject.MESHSulfate Transporters-
dc.subject.MESHSyndrome-
dc.subject.MESHUltrasonography-
dc.subject.MESHVestibular Aqueduct/diagnostic imaging-
dc.titleThe H723R mutation in the PDS/SLC26A4 gene is associated with typical pendred syndrome in korean patients-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Internal Medicine (내과학)-
dc.contributor.googleauthorMi Ae Cho-
dc.contributor.googleauthorSu Jin Jeong-
dc.contributor.googleauthorSang-Mi Eom-
dc.contributor.googleauthorHyun-Yung Park-
dc.contributor.googleauthorYoung Joo Lee-
dc.contributor.googleauthorSe Eun Park-
dc.contributor.googleauthorSo Young Park-
dc.contributor.googleauthorYumie Rhee-
dc.contributor.googleauthorEun Soek Kang-
dc.contributor.googleauthorChul Woo Ahn-
dc.contributor.googleauthorBong Soo Cha-
dc.contributor.googleauthorEun Jig Lee-
dc.contributor.googleauthorKyung Rae Kim-
dc.contributor.googleauthorHyun Chul Lee-
dc.contributor.googleauthorSung-Kil Lim-
dc.identifier.doi10.1385/ENDO:30:2:237-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA00068-
dc.contributor.localIdA00294-
dc.contributor.localIdA02270-
dc.contributor.localIdA03012-
dc.contributor.localIdA03050-
dc.contributor.localIdA03375-
dc.contributor.localIdA03996-
dc.relation.journalcodeJ00768-
dc.identifier.eissn1559-0100-
dc.identifier.pmid17322586-
dc.identifier.urlhttp://link.springer.com/article/10.1385%2FENDO%3A30%3A2%3A237-
dc.subject.keywordPendred syndrome-
dc.subject.keywordpendrin-
dc.subject.keywordPDS/SLC26A4 gene-
dc.contributor.alternativeNameKang, Eun Seok-
dc.contributor.alternativeNameKim, Kyung Rae-
dc.contributor.alternativeNameAhn, Chul Woo-
dc.contributor.alternativeNameRhee, Yumie-
dc.contributor.alternativeNameLee, Eun Jig-
dc.contributor.alternativeNameLim, Sung Kil-
dc.contributor.alternativeNameCha, Bong Soo-
dc.contributor.affiliatedAuthorKang, Eun Seok-
dc.contributor.affiliatedAuthorKim, Kyung Rae-
dc.contributor.affiliatedAuthorAhn, Chul Woo-
dc.contributor.affiliatedAuthorRhee, Yumie-
dc.contributor.affiliatedAuthorLee, Eun Jig-
dc.contributor.affiliatedAuthorLim, Sung Kil-
dc.contributor.affiliatedAuthorCha, Bong Soo-
dc.rights.accessRightsnot free-
dc.citation.volume30-
dc.citation.number2-
dc.citation.startPage237-
dc.citation.endPage243-
dc.identifier.bibliographicCitationENDOCRINE, Vol.30(2) : 237-243, 2006-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers

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