The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s10038-022-01112-2.pdf
Reference47 articles.
1. Kobayashi K, Sinasac DS, Iijima M, et al. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nat Genet. 1999;22:159–63.
2. Kimelman D, Confino R, Confino E, et al. Do patients who achieve pregnancy using IVF-PGS do the recommended genetic diagnostic testing in pregnancy? J Assist Reprod Genet. 2018;35:1881–5.
3. Saheki T, Kobayashi K, Iijima M, et al. Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle. Mol Genet Metab. 2004;81:S20–6.
4. Andres JM, Haafiz AB. Neonatal cholestasis. Gastroenterology and nutrition: neonatology questions and controversies. 2nd ed. Elsevier; 2012. p. 251–91.
5. Zhang ZH, Lin WX, Zheng QQ, et al. 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. Oncotarget. 2017;8:87182–93.
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