Prenatal Diagnosis of Citrin Deficiency in a Chinese Family with a Fatal Proband
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概要
- 論文の詳細を見る
- 2011-12-01
著者
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Shi Shan-shan
Department Of Fetal Medicine The First Affiliated Hospital Jinan University
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Tang Xiao-mei
Department Of Gynecology And Obstetrics The First Affiliated Hospital Jinan University
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ZHAO Xin-Jing
Department of Pediatrics, The First Affiliated Hospital, Jinan University
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ZHA Qing-Bing
Department of Fetal Medicine, The First Affiliated Hospital, Jinan University
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SONG Yuan-Zong
Department of Pediatrics, The First Affiliated Hospital, Jinan University
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XIAO Xiao-Min
Department of Gynecology and Obstetrics, The First Affiliated Hospital, Jinan University
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Zha Qing-bing
Department Of Fetal Medicine The First Affiliated Hospital Jinan University
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Xiao Xiao-min
Department Of Gynecology And Obstetrics The First Affiliated Hospital Jinan University
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Zhao Xin-jing
Department Of Pediatrics The First Affiliated Hospital Jinan University
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Song Yuan-zong
Department Of Pediatrics The First Affiliated Hospital Jinan University
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SONG Yuan-Zong
Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School
関連論文
- Prenatal Diagnosis of Citrin Deficiency in a Chinese Family with a Fatal Proband
- Neonatal intrahepatic cholestasis caused by citrin deficiency : efficacy of therapeutic formulas and update of clinical outcomes
- Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency
- Screening for Five Prevalent Mutations of SLC25A13 Gene in Guangdong, China: A Molecular Epidemiologic Survey of Citrin Deficiency