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SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency

机译：使用外周血淋巴细胞的SLC25A13 cDNA克隆分析有助于鉴定大缺失突变：患有柠檬粉缺乏引起的新生儿肝内胆汁淤积的婴儿的分子诊断

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Han-Shi Zeng; Wei-Xia Lin; Shu-Tao Zhao; Zhan-Hui Zhang; Heng-Wen Yang; Feng-Ping Chen; Yuan-Zong Song; Zhi-Nan Yin;
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1. SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency [J] . Zeng Han-Shi, Lin Wei-Xia, Zhao Shu-Tao, Molecular medicine reports . 2016,第6aPta1期

机译：使用外周血淋巴细胞的SLC25A13 cDNA克隆分析有助于鉴定大的缺失突变：柠檬黄缺乏引起的新生儿肝内胆汁淤积的婴儿分子诊断
2. Identification of a Large SLC25A13 Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD): A Clinical and Molecular Study [J] . Qi-Qi Zheng, Zhan-Hui Zhang, Han-Shi Zeng, BioMed research international . 2016,第6期

机译：通过使用CITRIN缺乏（NICCD）引起的新生儿肝内胆汁淤积物中的外周血淋巴细胞的复杂分子分析通过复杂的分子分析鉴定大型SLC2113缺失（NICCD）：临床和分子研究
3. Molecular analysis of SLC25A13 gene in human peripheral blood lymphocytes: Marked transcript diversity, and the feasibility of cDNA cloning as a diagnostic tool for citrin deficiency [J] . ZhangZ.-H., LinW.-X., DengM., Gene: An International Journal Focusing on Gene Cloning and Gene Structure and Function . 2012,第2期

机译：人类外周血淋巴细胞中SLC25A13基因的分子分析：明显的转录本多样性，以及cDNA克隆作为柑桔缺乏症诊断工具的可行性
4. Identification of a Large SLC25A13 Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD): A Clinical and Molecular Study [O] . Qi-Qi Zheng, Zhan-Hui Zhang, Han-Shi Zeng, 2006

机译：通过复杂的分子分析，使用Citrin缺乏症（NICCD）引起的新生儿肝内胆汁淤积的婴儿外周血淋巴细胞，通过大型分子分析鉴定大型SLC25A13缺失：临床和分子研究
5. Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among thai infants [O] . Treepongkaruna Suporn, Jitraruch Suttiruk, Kodcharin Porawee, 2012

机译：由citrin缺乏引起的新生儿肝内胆汁淤积：泰国婴儿的患病率和sLC25a13 突变

SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency

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