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Mutation analysis of Korean patients with citrullinemia.

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dc.contributor.authorHong, KM-
dc.contributor.authorShin, CH-
dc.contributor.authorChoi, YB-
dc.contributor.authorSong, WK-
dc.contributor.authorLee, SD-
dc.contributor.authorRhee, KI-
dc.contributor.authorJang, P-
dc.contributor.authorPak, GS-
dc.contributor.authorKim, JK-
dc.contributor.authorPaik, MK-
dc.contributor.authorHahn, SH-
dc.date.accessioned2011-07-28T05:44:27Z-
dc.date.available2011-07-28T05:44:27Z-
dc.date.issued2000-
dc.identifier.issn1016-8478-
dc.identifier.urihttp://repository.ajou.ac.kr/handle/201003/3669-
dc.description.abstractCitrullinemia is an autosomal recessive disease due to the mutations in the argininosuccinate synthetase (ASS) gene. Mutation analysis was performed on three Korean patients with citrullinemia. All of the three patients had the splicing mutation previously reported as IVS6-2A>G mutation. Two had Gly324Ser mutation and the other patient had a 67-bp insertion mutation in exon 15. The IVS6-2A>G mutation was reported to be found frequently in Japanese patients with citrullinemia, but Caucasian patients showed the extreme mutational heterogeneity. Although a limited number of Korean patients were studied, the IVS6-2A>G mutation appears to be one of the most frequent mutant alleles in Korean patients with citrullinemia. The Gly324Ser mutation identified in two patients also suggests the possible high frequency of this mutation in Korean patients as well.-
dc.language.isoen-
dc.subject.MESHAlleles-
dc.subject.MESHArgininosuccinate Synthase-
dc.subject.MESHCitrullinemia-
dc.subject.MESHDNA Mutational Analysis-
dc.subject.MESHHumans-
dc.subject.MESHInfant-
dc.subject.MESHIntrons-
dc.subject.MESHKorea-
dc.subject.MESHPoint Mutation-
dc.subject.MESHPolymerase Chain Reaction-
dc.subject.MESHRNA Splice Sites-
dc.titleMutation analysis of Korean patients with citrullinemia.-
dc.typeArticle-
dc.identifier.pmid10987146-
dc.contributor.affiliatedAuthor한, 시훈-
dc.type.localJournal Papers-
dc.citation.titleMolecules and cells-
dc.citation.volume10-
dc.citation.number4-
dc.citation.date2000-
dc.citation.startPage465-
dc.citation.endPage468-
dc.identifier.bibliographicCitationMolecules and cells, 10(4). : 465-468, 2000-
dc.identifier.eissn0219-1032-
dc.relation.journalidJ010168478-
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Pediatrics & Adolescent Medicine
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