Molecular genetics of citrullinemia types I and II
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Woo, Hye In | - |
dc.contributor.author | Park, Hyung-Doo | - |
dc.contributor.author | Lee, Yong-Wha | - |
dc.date.accessioned | 2021-08-11T22:47:01Z | - |
dc.date.available | 2021-08-11T22:47:01Z | - |
dc.date.issued | 2014-04-20 | - |
dc.identifier.issn | 0009-8981 | - |
dc.identifier.issn | 1873-3492 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/12260 | - |
dc.description.abstract | Over the past decade, the ASS1 and SLC25A13 genes, which are responsible for citrullinemia types I and II, have been identified, and numerous mutations in these genes have been reported. The clinical manifestations of citrullinemia are quite heterogeneous, and most studies have reported mutations in a small number of patients from a few families. Comprehensive integration of previous knowledge is important to understand the mutation spectrum and effect of the mutations on clinical manifestations. Therefore, we reviewed the English literature on mutations in the ASS and SLC25A13 genes, and their genotype-phenotype correlations to provide valuable insights into the molecular genetic background of citrullinemia types land II. (C) 2014 Elsevier B.V. All rights reserved. | - |
dc.format.extent | 8 | - |
dc.language | 영어 | - |
dc.language.iso | ENG | - |
dc.publisher | Elsevier BV | - |
dc.title | Molecular genetics of citrullinemia types I and II | - |
dc.type | Article | - |
dc.publisher.location | 네델란드 | - |
dc.identifier.doi | 10.1016/j.cca.2014.01.032 | - |
dc.identifier.scopusid | 2-s2.0-84893917769 | - |
dc.identifier.wosid | 000335613200001 | - |
dc.identifier.bibliographicCitation | Clinica Chimica Acta, v.431, pp 1 - 8 | - |
dc.citation.title | Clinica Chimica Acta | - |
dc.citation.volume | 431 | - |
dc.citation.startPage | 1 | - |
dc.citation.endPage | 8 | - |
dc.type.docType | Review | - |
dc.description.isOpenAccess | N | - |
dc.description.journalRegisteredClass | sci | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Medical Laboratory Technology | - |
dc.relation.journalWebOfScienceCategory | Medical Laboratory Technology | - |
dc.subject.keywordPlus | ARGININOSUCCINATE SYNTHETASE GENE | - |
dc.subject.keywordPlus | HOMOZYGOUS SLC25A13 MUTATION | - |
dc.subject.keywordPlus | UREA CYCLE DISORDERS | - |
dc.subject.keywordPlus | CITRIN DEFICIENCY | - |
dc.subject.keywordPlus | LIVER-TRANSPLANTATION | - |
dc.subject.keywordPlus | PRENATAL-DIAGNOSIS | - |
dc.subject.keywordPlus | KOREAN PATIENTS | - |
dc.subject.keywordPlus | CLASSICAL CITRULLINEMIA | - |
dc.subject.keywordPlus | NEONATAL PRESENTATION | - |
dc.subject.keywordPlus | POSTPARTUM PSYCHOSIS | - |
dc.subject.keywordAuthor | CTLN1 | - |
dc.subject.keywordAuthor | CTLN2 | - |
dc.subject.keywordAuthor | ASS1 | - |
dc.subject.keywordAuthor | SLC25A13 | - |
dc.subject.keywordAuthor | Genotype-phenotype | - |
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.
(31538) 22, Soonchunhyang-ro, Asan-si, Chungcheongnam-do, Republic of Korea+82-41-530-1114
COPYRIGHT 2021 by SOONCHUNHYANG UNIVERSITY ALL RIGHTS RESERVED.
Certain data included herein are derived from the © Web of Science of Clarivate Analytics. All rights reserved.
You may not copy or re-distribute this material in whole or in part without the prior written consent of Clarivate Analytics.