https://scholars.lib.ntu.edu.tw/handle/123456789/526057
標題: | Screening of nine SLC25A13 mutations: Their frequency in patients with citrin deficiency and high carrier rates in Asian populations | 作者: | Kobayashi K. Lu Y.B. Li M.X. Nishi I. Hsiao K.-J. Choeh K. Yang Y. WUH-LIANG HWU Reichardt J.K.V. Palmieri F. Okano Y. Saheki T. |
關鍵字: | Adult-onset type II citrullinemia; Argininosuccinate synthetase; Aspartate glutamate carrier; Cholestatic jaundice; Citrin; Malate aspartate shuttle; Mitochondrial solute carrier; Neonatal hepatitis; SLC25A13; Urea cycle | 公開日期: | 2003 | 出版社: | Academic Press Inc. | 卷: | 80 | 期: | 3 | 起(迄)頁: | 356-359 | 來源出版物: | Molecular Genetics and Metabolism | 摘要: | Deficiency of citrin encoded by SLC25A13 causes adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). So far we have diagnosed 126 (3) CTLN2 and 103 (4) NICCD patients in Japan (and other countries). From preliminary population analysis of the known nine SLC25A13 mutations, we found that the carrier frequency is high in China (1/79), Taiwan (1/98), and Korea (1/50) as well as Japan (1/69), suggesting that many patients with citrin deficiency exist in East Asia. ? 2003 Elsevier Inc. All rights reserved. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0142185092&doi=10.1016%2fS1096-7192%2803%2900140-9&partnerID=40&md5=128d4c8610d9add44cde861cb60b9c1a https://scholars.lib.ntu.edu.tw/handle/123456789/526057 |
ISSN: | 1096-7192 | DOI: | 10.1016/S1096-7192(03)00140-9 | SDG/關鍵字: | citrulline; article; China; citrullinemia; controlled study; female; gene frequency; gene mutation; genetic epidemiology; genetic screening; genetic susceptibility; heterozygote detection; human; Japan; Korea; major clinical study; male; mutational analysis; mutator gene; newborn hepatitis; population research; priority journal; Taiwan |
顯示於: | 醫學系 |
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