Article
SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China.
PloS one - 1 Jan 2013
Song Yuan-Zong, Zhang Zhan-Hui, Lin Wei-Xia, Zhao Xin-Jing, Deng Mei, Ma Yan-Li, Guo Li, Chen Feng-Ping, Long Xiao-Ling, He Xiang-Ling, Sunada Yoshihide, Soneda Shun, Nakatomi Akiko, Dateki Sumito, Ngu Lock-Hock, Kobayashi Keiko, Saheki Takeyori
Abstract excerpt
BACKGROUND: The human SLC25A13 gene encodes citrin, the liver-type mitochondrial aspartate/glutamate carrier isoform 2 (AGC2), and SLC25A13 mutations cause citrin deficiency (CD), a disease entity that encompasses different age-dependant clinical phenotypes such as Adult-onset Citrullinemia Type II (CTLN2) and Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD). The analyses of SLC25A13 gene and...
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