Cited 12 times in
Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients
DC Field | Value | Language |
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dc.contributor.author | 김동수 | - |
dc.date.accessioned | 2015-07-15T17:10:53Z | - |
dc.date.available | 2015-07-15T17:10:53Z | - |
dc.date.issued | 2003 | - |
dc.identifier.issn | 1434-5161 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/114391 | - |
dc.description.abstract | Mutations in the Bruton's tyrosine kinase ( BTK) gene are responsible for X-linked agammaglobulinemia (XLA). We identified BTK mutations in six patients with presumed XLA from unrelated Korean families. Four out of six mutations were novel: two missense mutations (P565T, C154Y), a point mutation in a splicing donor site (IVS11+1G>A), and a large deletion (a 6.1-kb deletion including BTK exons 11-18). The large deletion, identified by long-distance PCR, revealed Alu-Alu mediated recombination extended from an Alu sequence in intron 10 to another Alu sequence in intron 18, spanning a distance of 6.1 kb. The two known mutations consisted of one missense (G462D) mutation, and a point mutation in a splicing acceptor site (IVS7-9A>G). This study suggests that large genomic rearrangements involving Alu repeats are few but an important component of the spectrum of BTK mutations. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 322~326 | - |
dc.relation.isPartOf | JOURNAL OF HUMAN GENETICS | - |
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 | Agammaglobulinaemia Tyrosine Kinase | - |
dc.subject.MESH | Agammaglobulinemia/enzymology* | - |
dc.subject.MESH | Agammaglobulinemia/genetics* | - |
dc.subject.MESH | Alu Elements | - |
dc.subject.MESH | Base Sequence | - |
dc.subject.MESH | Child | - |
dc.subject.MESH | Child, Preschool | - |
dc.subject.MESH | Chromosomes, Human, X* | - |
dc.subject.MESH | Genetic Linkage | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Korea | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Molecular Sequence Data | - |
dc.subject.MESH | Mutation* | - |
dc.subject.MESH | Protein-Tyrosine Kinases/genetics* | - |
dc.subject.MESH | Tandem Repeat Sequences | - |
dc.title | Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pediatrics (소아과학) | - |
dc.contributor.googleauthor | Yue Wang | - |
dc.contributor.googleauthor | Hirokazu Kanegane | - |
dc.contributor.googleauthor | Eun-Kyeong Jo | - |
dc.contributor.googleauthor | Takeshi Futatani | - |
dc.contributor.googleauthor | Chang-Hwa Song | - |
dc.contributor.googleauthor | Jeong-Kyu Park | - |
dc.contributor.googleauthor | Jung Soo Kim | - |
dc.contributor.googleauthor | Dong Soo Kim | - |
dc.contributor.googleauthor | Kang-Mo Ahn | - |
dc.contributor.googleauthor | Sang-Il Lee | - |
dc.contributor.googleauthor | Hyeon Jin Park | - |
dc.contributor.googleauthor | Youn Soo Hahn | - |
dc.contributor.googleauthor | Jae-Ho Lee | - |
dc.contributor.googleauthor | Toshio Miyawaki | - |
dc.identifier.doi | 10.1007/s10038-003-0032-4 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A00405 | - |
dc.relation.journalcode | J01446 | - |
dc.identifier.eissn | 1435-232X | - |
dc.identifier.pmid | 12768435 | - |
dc.identifier.url | http://link.springer.com/article/10.1007/s10038-003-0032-4 | - |
dc.subject.keyword | X-linked agammaglobulinemia | - |
dc.subject.keyword | Bruton's tyrosine kinase | - |
dc.subject.keyword | mutation | - |
dc.subject.keyword | alu repeat recombination | - |
dc.subject.keyword | Korea | - |
dc.contributor.alternativeName | Kim, Dong Soo | - |
dc.contributor.affiliatedAuthor | Kim, Dong Soo | - |
dc.rights.accessRights | not free | - |
dc.citation.volume | 48 | - |
dc.citation.number | 6 | - |
dc.citation.startPage | 322 | - |
dc.citation.endPage | 326 | - |
dc.identifier.bibliographicCitation | JOURNAL OF HUMAN GENETICS, Vol.48(6) : 322-326, 2003 | - |
dc.identifier.rimsid | 47272 | - |
dc.type.rims | ART | - |
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