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SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China.
Song YZ, Zhang ZH, Lin WX, Zhao XJ, Deng M, Ma YL, Guo L, Chen FP, Long XL, He XL, Sunada Y, Soneda S, Nakatomi A, Dateki S, Ngu LH, Kobayashi K, Saheki T. Song YZ, et al. Among authors: deng m. PLoS One. 2013 Sep 19;8(9):e74544. doi: 10.1371/journal.pone.0074544. eCollection 2013. PLoS One. 2013. PMID: 24069319 Free PMC article.
Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance.
Zeng HS, Zhao ST, Deng M, Zhang ZH, Cai XR, Chen FP, Song YZ. Zeng HS, et al. Among authors: deng m. Int J Mol Med. 2014 Nov;34(5):1241-8. doi: 10.3892/ijmm.2014.1929. Epub 2014 Sep 10. Int J Mol Med. 2014. PMID: 25216257 Free PMC article.
4,187 results