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The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis

Mai-Huong Thi Nguyen, Anh-Hoa Pham Nguyen, Diem-Ngoc Ngo, Phuong-Mai Thi Nguyen, Hung‐Sang Tang, Hoa Giang, Y‐Thanh Lu, Hoai‐Nghia Nguyen, Minh-Dien Tran

2023Journal of Human Genetics11 citationsDOI

Topics & Concepts

CitrullinemiaMissense mutationSanger sequencingGeneticsCompound heterozygosityBiologyNonsense mutationMutationGenotypeMolecular biologyGeneUrea cycleArginineAmino acidMetabolism and Genetic DisordersComplement system in diseasesGlycosylation and Glycoproteins Research
The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis | Litcius