DC Field | Value | Language |
---|---|---|
dc.contributor.author | Hong, Kyeong-Man | ko |
dc.contributor.author | Paik, Moon-Kee | ko |
dc.contributor.author | Yoo, Ook-Joon | ko |
dc.contributor.author | Hahn, Si-Houn | ko |
dc.date.accessioned | 2013-02-27T11:30:40Z | - |
dc.date.available | 2013-02-27T11:30:40Z | - |
dc.date.created | 2012-02-06 | - |
dc.date.created | 2012-02-06 | - |
dc.date.created | 2012-02-06 | - |
dc.date.issued | 2000-01 | - |
dc.identifier.citation | MOLECULES AND CELLS, v.10, no.6, pp.692 - 694 | - |
dc.identifier.issn | 1016-8478 | - |
dc.identifier.uri | http://hdl.handle.net/10203/68278 | - |
dc.description.abstract | DNA prenatal diagnosis was successfully performed on a family with citrullinemia. The father carried the G324S mutation and the mother carried the IVS6-2A > G mutation in the argininosuccinate synthase gene. They had a previous child with citrullinemia who died in the week after birth owing to complicated hyperammonemia. The lost child turned out to be a compound heterozygote. DNA was extracted from the cultured amniotic cells after amniocentesis done at 18-week gestation. For the detection of the G324S mutation, the PCR and restriction fragment length polymorphism method was used, and for the IVS6-2A > G mutation, allele-specific PCR was performed. The fetus was found to carry G324S but not IVS6-2A > G, suggesting a heterozygote carrier. Pregnancy was continued and a healthy boy was born. Plasma amino acid analysis performed on the third day after birth was normal and the serial ammonia level was in the normal range. A molecular study on his genomic DNA after birth also agreed with the previous fetal DNA analysis. He is now 2-months old with normal growth and development. | - |
dc.language | Korean | - |
dc.publisher | 한국분자세포생물학회 | - |
dc.title | The first successful prenatal diagnosis on a Korean family with citrullinemia | - |
dc.type | Article | - |
dc.identifier.wosid | 000170492100013 | - |
dc.identifier.scopusid | 2-s2.0-0034739863 | - |
dc.type.rims | ART | - |
dc.citation.volume | 10 | - |
dc.citation.issue | 6 | - |
dc.citation.beginningpage | 692 | - |
dc.citation.endingpage | 694 | - |
dc.citation.publicationname | MOLECULES AND CELLS | - |
dc.identifier.doi | 10.1007/s10059-000-0692-2 | - |
dc.contributor.localauthor | Yoo, Ook-Joon | - |
dc.contributor.nonIdAuthor | Hong, Kyeong-Man | - |
dc.contributor.nonIdAuthor | Paik, Moon-Kee | - |
dc.contributor.nonIdAuthor | Hahn, Si-Houn | - |
dc.description.isOpenAccess | N | - |
dc.type.journalArticle | Article | - |
dc.subject.keywordPlus | ARGININOSUCCINATE SYNTHETASE GENE | - |
dc.subject.keywordPlus | CLASSICAL CITRULLINEMIA | - |
dc.subject.keywordPlus | MUTATIONS | - |
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