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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
Zhang, Zhan-Hui, Lin, Wei-Xia, Zheng, Qi-Qi, Guo, Li, Song, Yuan-ZongVolume:
8
Language:
english
Journal:
Oncotarget
DOI:
10.18632/oncotarget.19901
Date:
October, 2017
File:
PDF, 2.47 MB
english, 2017