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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

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dc.contributor.author김동수-
dc.date.accessioned2015-07-15T17:10:53Z-
dc.date.available2015-07-15T17:10:53Z-
dc.date.issued2003-
dc.identifier.issn1434-5161-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/114391-
dc.description.abstractMutations 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.statementOfResponsibilityopen-
dc.format.extent322~326-
dc.relation.isPartOfJOURNAL OF HUMAN GENETICS-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAgammaglobulinaemia Tyrosine Kinase-
dc.subject.MESHAgammaglobulinemia/enzymology*-
dc.subject.MESHAgammaglobulinemia/genetics*-
dc.subject.MESHAlu Elements-
dc.subject.MESHBase Sequence-
dc.subject.MESHChild-
dc.subject.MESHChild, Preschool-
dc.subject.MESHChromosomes, Human, X*-
dc.subject.MESHGenetic Linkage-
dc.subject.MESHHumans-
dc.subject.MESHKorea-
dc.subject.MESHMale-
dc.subject.MESHMolecular Sequence Data-
dc.subject.MESHMutation*-
dc.subject.MESHProtein-Tyrosine Kinases/genetics*-
dc.subject.MESHTandem Repeat Sequences-
dc.titleIdentification 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.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Pediatrics (소아과학)-
dc.contributor.googleauthorYue Wang-
dc.contributor.googleauthorHirokazu Kanegane-
dc.contributor.googleauthorEun-Kyeong Jo-
dc.contributor.googleauthorTakeshi Futatani-
dc.contributor.googleauthorChang-Hwa Song-
dc.contributor.googleauthorJeong-Kyu Park-
dc.contributor.googleauthorJung Soo Kim-
dc.contributor.googleauthorDong Soo Kim-
dc.contributor.googleauthorKang-Mo Ahn-
dc.contributor.googleauthorSang-Il Lee-
dc.contributor.googleauthorHyeon Jin Park-
dc.contributor.googleauthorYoun Soo Hahn-
dc.contributor.googleauthorJae-Ho Lee-
dc.contributor.googleauthorToshio Miyawaki-
dc.identifier.doi10.1007/s10038-003-0032-4-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA00405-
dc.relation.journalcodeJ01446-
dc.identifier.eissn1435-232X-
dc.identifier.pmid12768435-
dc.identifier.urlhttp://link.springer.com/article/10.1007/s10038-003-0032-4-
dc.subject.keywordX-linked agammaglobulinemia-
dc.subject.keywordBruton's tyrosine kinase-
dc.subject.keywordmutation-
dc.subject.keywordalu repeat recombination-
dc.subject.keywordKorea-
dc.contributor.alternativeNameKim, Dong Soo-
dc.contributor.affiliatedAuthorKim, Dong Soo-
dc.rights.accessRightsnot free-
dc.citation.volume48-
dc.citation.number6-
dc.citation.startPage322-
dc.citation.endPage326-
dc.identifier.bibliographicCitationJOURNAL OF HUMAN GENETICS, Vol.48(6) : 322-326, 2003-
dc.identifier.rimsid47272-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers

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