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  1. Article

    Open Access

    Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution

    Citrin deficiency (CD) is a Mendelian disease due to biallelic mutations of SLC25A13 gene. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is the major pediatric CD phenotype, and its defini...

    Wei-**a Lin, Han-Shi Zeng, Zhan-Hui Zhang, Man Mao, Qi-Qi Zheng… in Scientific Reports (2016)

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