スポンサーリンク
Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School | 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