- Molecular diagnosis of citrin deficiency in an infant with intrahepatic cholestasis: identification of a 21.7kb gross deletion that completely silences the transcriptional and translational expression of the affected SLC25A13 allele
Zhan-Hui Zhang et al, 2017, Oncotarget CrossRef - The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases
Camilla Ceccatelli Berti et al, 2021, Genes CrossRef - Bioinformatic and functional analysis of promoter region of human SLC25A13 gene
Jun-Lin Chen et al, 2019, Gene CrossRef - Identification of a LargeSLC25A13Deletion 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
Qi-Qi Zheng et al, 2016, BioMed Research International CrossRef - Blood glucose and insulin and correlation of SLC25A13 mutations with biochemical changes in NICCD patients
Chun-Ting Lu et al, 2017, Experimental Biology and Medicine CrossRef - Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition
Jun Kido et al, 2024, Journal of Inherited Metabolic Disease CrossRef - SLC25A13 c.1610_1612delinsAT mutation in an Indian patient and literature review of 79 cases of citrin deficiency for genotype-phenotype associations
Akella Radha Rama Devi et al, 2018, Gene CrossRef - The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders
Qingyang Xiao et al, 2021, npj Genomic Medicine CrossRef - 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
Han-Shi Zeng et al, 2016, Molecular Medicine Reports CrossRef - Case 1: Severe Jaundice in a 2-day-old Term Neonate
Allison Lyle et al, 2019, NeoReviews CrossRef - Clinical and genetic analysis of 26 Chinese patients with neonatal intrahepatic cholestasis due to citrin deficiency
Jiansheng Lin et al, 2024, Clinica Chimica Acta CrossRef - Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution
Wei-Xia Lin et al, 2016, Scientific Reports CrossRef