Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations
Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations
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DOI：
10.1016/s1096-7192(03)00140-9
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发表时间：
2003-11-01
影响因子：
3.8
通讯作者：
Saheki, T
中科院分区：
文献类型：
--
作者：
Kobayashi, K;Lu, YB;Saheki, T
SLC25A13 编码的柠檬酸缺乏会导致成人发病的 11 型瓜氨酸血症 (CTLN2) 和特发性新生儿肝炎 (NICCD)。到目前为止，我们已在日本（和其他国家）诊断出 126 (3) 例 CTLN2 和 103 (4) 例 NICCD 患者。通过对已知的9个SLC25A13突变的初步人群分析，我们发现中国（1/79）、台湾（1/98）、韩国（1/50）以及日本（1/69）的携带频率较高，表明东亚地区存在许多citrin缺乏症患者。 (C) 2003 Elsevier Inc. 保留所有权利。
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.