Brief Article
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World J Gastroenterol. Jul 28, 2013; 19(28): 4545-4551
Published online Jul 28, 2013. doi: 10.3748/wjg.v19.i28.4545
Different regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis
Rui Chen, Xiao-Hong Wang, Hai-Yan Fu, Shao-Ren Zhang, Kuerbanjiang Abudouxikuer, Takeyori Saheki, Jian-She Wang
Rui Chen, Xiao-Hong Wang, Hai-Yan Fu, Shao-Ren Zhang, Kuerbanjiang Abudouxikuer, Jian-She Wang, Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University, Shanghai 201102, China
Takeyori Saheki, Institute for Health Sciences, Tokushima Bunri University, Tokushima 770-8514, Japan
Jian-She Wang, Department of Pediatrics, Jinshan Hospital, Fudan University, Shanghai 201508, China
Author contributions: Chen R, Fu HY, Zhang SR and Abudouxikuer K collected the samples and performed the gene tests and Western blotting; Chen R wrote the first graft of this paper; Wang XH conducted the follow up study and supported the funding; Wang JS designed and supervised the research and supported the funding; all authors contributed to the data analysis, revising and approving the final paper to be published.
Supported by National Natural Science Foundation of China, No. 30973230 and No. 81070281
Correspondence to: Jian-She Wang, Professor of Medicine, Department of Pediatrics, Jinshan Hospital, Fudan University, No. 391 Jinyi Road, Jinshan District, Shanghai 201508, China. jshwang@shmu.edu.cn
Telephone: +86-21-64931171 Fax: +86-21-64931171
Received: March 3, 2013
Revised: April 24, 2013
Accepted: June 1, 2013
Published online: July 28, 2013
Core Tip

Core tip: Genetic testing of SLC25A13 gene was performed in individuals from southern, border and northern regions of China. The proportion of four common mutations was significant higher in southern region than in the border region and the northern region, so mutation screening for the common 4 mutations an appropriate test in the southern region. In the border and northern region, DNA sequencing is probably more practical.