Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency-Reference-Cited by-同舟云学术

Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency

Published:2005-07 Issue:7 Volume:50 Page:338-346
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Lu Yao Bang,Kobayashi Keiko,Ushikai Miharu,Tabata Ayako,Iijima Mikio,Li Meng Xian,Lei Lei,Kawabe Kotaro,Taura Satoru,Yang Yanling,Liu Tze-Tze,Chiang Szu-Hui,Hsiao Kwang-Jen,Lau Yu-Lung,Tsui Lap-Chee,Lee Dong Hwan,Saheki Takeyori

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg200551.pdf

Reference41 articles.

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2. Chu JY, Huang W, Kuang SQ, Wang JM, Xu JJ, Chu ZT, Yang ZQ, Lin KQ, Li P, Wu M, Geng ZC, Tan CC, Du RF, Jin L (1998) Genetic relationship of populations in China. Proc Natl Acad Sci USA 95:11763–11768

3. Hachisu M, Oda Y, Goto M, Kobayashi K, Saheki T, Ohura T, Noma S, Kitanaka S (2005) Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhood. Eur J Pediatr 164:109–110

4. Hammer MF, Horai S (1995) Y chromosomal DNA variation and the peopling of Japan. Am J Hum Genet 56:951–962

5. Hwu W-L, Kobayashi K, Hu Y-H, Yamaguchi N, Saheki T, Chou S-P, Wang J-H (2001) A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13 gene. J Med Genet 38:E23

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