Novel and Recurrent Mutations of the LDL Receptor Gene in Korean Patients with Familial Hypercholesterolemia
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Ji-Hyun Kim | - |
dc.contributor.author | Ho-Kap Choi | - |
dc.contributor.author | Haeyul Lee | - |
dc.contributor.author | Hyun Young Park | - |
dc.contributor.author | Jeong-Ho Kim | - |
dc.contributor.author | Jong-Won Kim | - |
dc.contributor.author | Hyon J. Kim | - |
dc.contributor.author | 이승택 | - |
dc.date.accessioned | 2021-09-24T05:40:05Z | - |
dc.date.available | 2021-09-24T05:40:05Z | - |
dc.date.issued | 2004-08 | - |
dc.identifier.issn | 1016-8478 | - |
dc.identifier.issn | 0219-1032 | - |
dc.identifier.uri | https://scholarworks.sookmyung.ac.kr/handle/2020.sw.sookmyung/51953 | - |
dc.description.abstract | We have identified 16 different mutations of the lowdensity lipoprotein receptor (LDLR) gene in 25 unrelated Korean patients with heterozygous familial hypercholesterolemia (FH), including five novel mutations, C83Y, 661del17, 1705insCTAG, C675X, and 941- 1G>A. The 1705insCTAG mutation in which the four 3′-terminal nucleotides of exon 11 are duplicated was found to prevent splicing of exon 11 and would therefore generate a truncated polypeptide. The in-frame 36-bp deletion (1591del36) in exon 11, which had been reported only in one Korean FH patient, was also found. We showed that this change affects transport of the LDL receptor from the endoplasmic reticulum to the cell surface. In addition, we found 8 mutations (- 136C>T, E119K, E207K, E207X, F382L, R574Q, 1846- 1G>A, and P664L) that had been described in other ethnic groups but not in Koreans, and 2 mutations (R94H and D200N) that had been described in Koreans as well as other ethnic groups. 5 mutations (1591del36, E119K, E207X, E207K, and P664L) were found more than once in the Korean FH samples. Identification of the novel and recurring LDLR mutations in Korean FH patients should facilitate prenatal and early diagnosis in families at high risk of FH. | - |
dc.format.extent | 8 | - |
dc.language | 영어 | - |
dc.language.iso | ENG | - |
dc.publisher | 한국분자세포생물학회 | - |
dc.title | Novel and Recurrent Mutations of the LDL Receptor Gene in Korean Patients with Familial Hypercholesterolemia | - |
dc.title.alternative | Novel and Recurrent Mutations of the LDL Receptor Gene in Korean Patients with Familial Hypercholesterolemia | - |
dc.type | Article | - |
dc.publisher.location | 대한민국 | - |
dc.identifier.wosid | 000223649100009 | - |
dc.identifier.bibliographicCitation | Molecules and Cells, v.18, no.1, pp 63 - 70 | - |
dc.citation.title | Molecules and Cells | - |
dc.citation.volume | 18 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 63 | - |
dc.citation.endPage | 70 | - |
dc.identifier.kciid | ART001095642 | - |
dc.description.isOpenAccess | N | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.description.journalRegisteredClass | kci | - |
dc.subject.keywordAuthor | Familial Cholesterolemia | - |
dc.subject.keywordAuthor | Korean Patients | - |
dc.subject.keywordAuthor | LDL Receptor | - |
dc.subject.keywordAuthor | Novel Mutations | - |
dc.subject.keywordAuthor | Recurrent Mutations. | - |
dc.subject.keywordAuthor | Familial Cholesterolemia | - |
dc.subject.keywordAuthor | Korean Patients | - |
dc.subject.keywordAuthor | LDL Receptor | - |
dc.subject.keywordAuthor | Novel Mutations | - |
dc.subject.keywordAuthor | Recurrent Mutations. | - |
dc.identifier.url | http://repository.ajou.ac.kr/bitstream/201003/3329/3/15359125.pdf | - |
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