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
Author:
Affiliation:
1. Clinical Medicine Research Institute, The First Affiliated Hospital, Jinan University, Guangzhou 510630, China
2. Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou 510630, China
Publisher
Impact Journals, LLC
Subject
Oncology
Cited by 9 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant;Gene;2023-07
2. Case report: Three novel variants on SLC25A13 in four infants with neonatal intrahepatic cholestasis caused by citrin deficiency;Frontiers in Pediatrics;2023-03-29
3. The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis;Journal of Human Genetics;2023-01-04
4. Identification of Novel Mutations in Chinese Infants With Citrullinemia;Frontiers in Genetics;2022-03-03
5. In-house multiplex ligation-dependent probe amplification assay for citrin deficiency: analytical validation and novel exonic deletions in SLC25A13;Pathology;2021-12
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