Clinical Focus ›› 2014, Vol. 29 ›› Issue (7): 737-739.

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Survey on carrier rates of six common SLC25A13 gene mutations in children of Jilin Province

ZHANG Lei;ZHOU Dan;XU Xiao-heng;ZHAO Hui;ZHANG Si-jin   

  • Online:2014-07-05 Published:2014-07-05

Abstract: Objective To evaluate the frequency of six common mutations carrier rates identified in the SLC25A13 gene of children younger than five years in Jilin Province.Methods Totally 160 dried spot blood specimens of children were collected in Department of Pedi

Key words: cholestasis;intrahepatic, genetic testing, citrin deficiency, carrier frequency, SLC25A13

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