| Literature DB >> 14680984 |
Keiko Kobayashi1, Yao Bang Lu, Meng Xian Li, Ikumi Nishi, Kwang-Jen Hsiao, Kyuchul Choeh, Yanling Yang, Wuh-Liang Hwu, Juergen K V Reichardt, Ferdinando Palmieri, Yoshiyuki Okano, Takeyori Saheki.
Abstract
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.Entities:
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Year: 2003 PMID： 14680984 DOI： 10.1016/S1096-7192(03)00140-9
Source DB: PubMed Journal: Mol Genet Metab ISSN： 1096-7192 Impact factor: 4.797