Cited 5 times in
The H723R mutation in the PDS/SLC26A4 gene is associated with typical pendred syndrome in korean patients
DC Field | Value | Language |
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dc.contributor.author | 강은석 | - |
dc.contributor.author | 김경래 | - |
dc.contributor.author | 안철우 | - |
dc.contributor.author | 이유미 | - |
dc.contributor.author | 이은직 | - |
dc.contributor.author | 임승길 | - |
dc.contributor.author | 차봉수 | - |
dc.date.accessioned | 2015-06-10T12:52:48Z | - |
dc.date.available | 2015-06-10T12:52:48Z | - |
dc.date.issued | 2006 | - |
dc.identifier.issn | 1355-008X | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/110613 | - |
dc.description.abstract | Inherited 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.statementOfResponsibility | open | - |
dc.format.extent | 237~243 | - |
dc.relation.isPartOf | ENDOCRINE | - |
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 | DNA Mutational Analysis | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Goiter/congenital* | - |
dc.subject.MESH | Goiter/diagnostic imaging | - |
dc.subject.MESH | Goiter/genetics* | - |
dc.subject.MESH | Hearing Loss, Sensorineural/congenital* | - |
dc.subject.MESH | Hearing Loss, Sensorineural/genetics* | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Korea | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Membrane Transport Proteins/genetics* | - |
dc.subject.MESH | Middle Aged | - |
dc.subject.MESH | Mutation | - |
dc.subject.MESH | Pedigree | - |
dc.subject.MESH | Sulfate Transporters | - |
dc.subject.MESH | Syndrome | - |
dc.subject.MESH | Ultrasonography | - |
dc.subject.MESH | Vestibular Aqueduct/diagnostic imaging | - |
dc.title | The H723R mutation in the PDS/SLC26A4 gene is associated with typical pendred syndrome in korean patients | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Internal Medicine (내과학) | - |
dc.contributor.googleauthor | Mi Ae Cho | - |
dc.contributor.googleauthor | Su Jin Jeong | - |
dc.contributor.googleauthor | Sang-Mi Eom | - |
dc.contributor.googleauthor | Hyun-Yung Park | - |
dc.contributor.googleauthor | Young Joo Lee | - |
dc.contributor.googleauthor | Se Eun Park | - |
dc.contributor.googleauthor | So Young Park | - |
dc.contributor.googleauthor | Yumie Rhee | - |
dc.contributor.googleauthor | Eun Soek Kang | - |
dc.contributor.googleauthor | Chul Woo Ahn | - |
dc.contributor.googleauthor | Bong Soo Cha | - |
dc.contributor.googleauthor | Eun Jig Lee | - |
dc.contributor.googleauthor | Kyung Rae Kim | - |
dc.contributor.googleauthor | Hyun Chul Lee | - |
dc.contributor.googleauthor | Sung-Kil Lim | - |
dc.identifier.doi | 10.1385/ENDO:30:2:237 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A00068 | - |
dc.contributor.localId | A00294 | - |
dc.contributor.localId | A02270 | - |
dc.contributor.localId | A03012 | - |
dc.contributor.localId | A03050 | - |
dc.contributor.localId | A03375 | - |
dc.contributor.localId | A03996 | - |
dc.relation.journalcode | J00768 | - |
dc.identifier.eissn | 1559-0100 | - |
dc.identifier.pmid | 17322586 | - |
dc.identifier.url | http://link.springer.com/article/10.1385%2FENDO%3A30%3A2%3A237 | - |
dc.subject.keyword | Pendred syndrome | - |
dc.subject.keyword | pendrin | - |
dc.subject.keyword | PDS/SLC26A4 gene | - |
dc.contributor.alternativeName | Kang, Eun Seok | - |
dc.contributor.alternativeName | Kim, Kyung Rae | - |
dc.contributor.alternativeName | Ahn, Chul Woo | - |
dc.contributor.alternativeName | Rhee, Yumie | - |
dc.contributor.alternativeName | Lee, Eun Jig | - |
dc.contributor.alternativeName | Lim, Sung Kil | - |
dc.contributor.alternativeName | Cha, Bong Soo | - |
dc.contributor.affiliatedAuthor | Kang, Eun Seok | - |
dc.contributor.affiliatedAuthor | Kim, Kyung Rae | - |
dc.contributor.affiliatedAuthor | Ahn, Chul Woo | - |
dc.contributor.affiliatedAuthor | Rhee, Yumie | - |
dc.contributor.affiliatedAuthor | Lee, Eun Jig | - |
dc.contributor.affiliatedAuthor | Lim, Sung Kil | - |
dc.contributor.affiliatedAuthor | Cha, Bong Soo | - |
dc.rights.accessRights | not free | - |
dc.citation.volume | 30 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 237 | - |
dc.citation.endPage | 243 | - |
dc.identifier.bibliographicCitation | ENDOCRINE, Vol.30(2) : 237-243, 2006 | - |
dc.identifier.rimsid | 57490 | - |
dc.type.rims | ART | - |
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