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
Authors:
- Wei-Xia LinWLWei-Xia Lin
- Mei DengMDMei Deng
- Xin-Jing ZhaoXZXin-Jing Zhao
- Yuan-Zong SongYSYuan-Zong Song
Abstract
No abstract availableKeywords
Funding Information
- Innovation Fund of Jinan University (21612430)
- National Natural Science Foundation of China (NSFC) (81070279, 81270957)
This publication has 38 references indexed in Scilit:
- A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): A clinical, molecular, and functional studyMolecular Genetics and Metabolism, 2011
- Genome-Wide Identification of Alternative Splice Forms Down-Regulated by Nonsense-Mediated mRNA Decay in DrosophilaPLOS Genetics, 2009
- Alternative isoform regulation in human tissue transcriptomesNature, 2008
- Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver diseaseJournal of Hepatology, 2008
- Alternative splicing resulting in nonsense-mediated mRNA decay: what is the meaning of nonsense?Trends in Biochemical Sciences, 2008
- Complement Factor H Polymorphism in Age-Related Macular DegenerationScience, 2005
- Identification of 156 novel SNPs in 29 genes encoding G-protein coupled receptorsJournal of Human Genetics, 2005
- Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humansProceedings of the National Academy of Sciences, 2002
- Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)Journal of Human Genetics, 2002
- Nomenclature for the description of human sequence variationsHuman Genetics, 2001