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Prevalent and Novel Mutations of the Tyrosinase Gene in Korean Patients with Tyrosinase-deficient Oculocutaneous Albinism
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 이진성 | - |
dc.date.accessioned | 2020-07-03T17:15:10Z | - |
dc.date.available | 2020-07-03T17:15:10Z | - |
dc.date.issued | 1997 | - |
dc.identifier.issn | 1016-8478 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/177382 | - |
dc.description.abstract | We analyzed the tyrosinase (TYR) gene of 12 Korean patients with various types of oculocutaneous albinism (OCA). We identified five different mutations in the TYR gene in 4 patients with severe OCA and in 2 patients with mild OCA, but found no mutations in the 6 patients with mild OCA phenotypes. Among the 5 mutations, a frameshift mutation, P310insC, was detected most frequently (allele frequency = 0.5), and the other mutations were found less frequently, two of which, L288delT and IVS2-7t-->a,-10(-)-11deltt, are novel. This study may provide valuable information for the molecular diagnosis of and accurate genetic counseling for OCA1 in Koreans and perhaps other Asian groups. | - |
dc.description.statementOfResponsibility | open | - |
dc.language | English | - |
dc.publisher | Korean Society for Molecular and Cellular Biology | - |
dc.relation.isPartOf | MOLECULES AND CELLS | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.subject.MESH | Adult | - |
dc.subject.MESH | Albinism, Oculocutaneous/enzymology* | - |
dc.subject.MESH | Albinism, Oculocutaneous/genetics* | - |
dc.subject.MESH | Amino Acid Sequence | - |
dc.subject.MESH | Base Sequence | - |
dc.subject.MESH | Child, Preschool | - |
dc.subject.MESH | DNA Primers/genetics | - |
dc.subject.MESH | Exons | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Frameshift Mutation | - |
dc.subject.MESH | Genetic Counseling | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Korea | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Monophenol Monooxygenase/deficiency* | - |
dc.subject.MESH | Monophenol Monooxygenase/genetics* | - |
dc.subject.MESH | Mutation* | - |
dc.subject.MESH | Phenotype | - |
dc.subject.MESH | Polymerase Chain Reaction | - |
dc.subject.MESH | Polymorphism, Genetic | - |
dc.title | Prevalent and Novel Mutations of the Tyrosinase Gene in Korean Patients with Tyrosinase-deficient Oculocutaneous Albinism | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pediatrics (소아청소년과학교실) | - |
dc.contributor.googleauthor | Sang-Kyu Park | - |
dc.contributor.googleauthor | Kyoung-Hwa Lee | - |
dc.contributor.googleauthor | Kyung-Chan Park | - |
dc.contributor.googleauthor | Jin-Sung Lee | - |
dc.contributor.googleauthor | Richard A. Spritz | - |
dc.contributor.googleauthor | Seung-Taek Lee | - |
dc.contributor.localId | A03227 | - |
dc.relation.journalcode | J02273 | - |
dc.identifier.eissn | 0219-1032 | - |
dc.identifier.pmid | 9163730 | - |
dc.contributor.alternativeName | Lee, Jin Sung | - |
dc.contributor.affiliatedAuthor | 이진성 | - |
dc.citation.volume | 7 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 187 | - |
dc.citation.endPage | 191 | - |
dc.identifier.bibliographicCitation | MOLECULES AND CELLS, Vol.7(2) : 187-191, 1997 | - |
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