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学科主题临床医学
Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations
Kobayashi, K1; Lu, YB1; Li, MX1; Nishi, I1; Hsiao, KJ1; Choeh, K1; Yang, YL1; Hwu, WL1; Reichardt, JKV1; Palmieri, F1; Okano, Y1; Saheki, T1
关键词Adult-onset Type Ii Citrullinemia Argininosuccinate Synthetase Aspartate Glutarnate Carrier Cholestatic Jaundice Citrin Slc25a13 Malate Aspartate Shuttle Mitochondrial Solute Carrier Neonatal Hepatitis Urea Cycle
刊名MOLECULAR GENETICS AND METABOLISM
2003-11-01
DOI10.1016/S1096-7192(03)00140-9
80期:3页:356-359
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Biochemistry & Molecular Biology ; Genetics & Heredity ; Medicine, Research & Experimental
研究领域[WOS]Biochemistry & Molecular Biology ; Genetics & Heredity ; Research & Experimental Medicine
关键词[WOS]II CITRULLINEMIA ; LIVER-TRANSPLANTATION ; UREA CYCLE ; IDENTIFICATION ; GENE
英文摘要

Deficiency of citrin encoded by SLC25A13 causes adult-onset type 11 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. (C) 2003 Elsevier Inc. All rights reserved.

语种英语
WOS记录号WOS:000186513900012
Citation statistics
Cited Times:42[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/52363
Collection北京大学第一临床医学院_儿科
作者单位1.Eulji Univ, Sch Med, Dept Pediat, Taejon, South Korea
2.Peking Univ, Hosp 1, Dept Pediat, Beijing, Peoples R China
3.Univ Bari, Dept Pharmacobiol, Bari, Italy
4.Osaka City Univ, Grad Sch Med, Dept Pediat, Osaka 558, Japan
5.Natl Yang Ming Univ, Inst Genet, Taipei, Taiwan
6.Taipei Vet Gen Hosp, Taipei, Taiwan
7.Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Mol Metab & Biochem Genet, Kagoshima 8908520, Japan
8.Natl Taiwan Univ Hosp, Dept Pediat & Med Genet, Taipei, Taiwan
9.Univ So Calif, Keck Sch Med, Inst Med Genet, Los Angeles, CA USA
Recommended Citation
GB/T 7714
Kobayashi, K,Lu, YB,Li, MX,et al. Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations[J]. MOLECULAR GENETICS AND METABOLISM,2003,80(3):356-359.
APA Kobayashi, K.,Lu, YB.,Li, MX.,Nishi, I.,Hsiao, KJ.,...&Saheki, T.(2003).Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations.MOLECULAR GENETICS AND METABOLISM,80(3),356-359.
MLA Kobayashi, K,et al."Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations".MOLECULAR GENETICS AND METABOLISM 80.3(2003):356-359.
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