Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Jaundice and SLC25A13[original query] |
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[Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2010 Apr 27 (2): 2. Xing Y, Qiu W, Ye J, Han L, Xu S, Zhang H, Gao X, Wang Y, Gu X |
Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai infants. BMC gastroenterology 2012 12 (1): 141. Treepongkaruna Suporn, Jitraruch Suttiruk, Kodcharin Porawee, Charoenpipop Dussadee, Suwannarat Pim, Pienvichit Paneeya, Kobayashi Keiko, Wattanasirichaigoon Duangrurd |
SLC25A13 c.1610_1612delinsAT mutation in an Indian patient and literature review of 79 cases of citrin deficiency for genotype-phenotype associations. Gene 2018 5 668 190-195. Radha Rama Devi Akella, Naushad Shaik Mohamm |
p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency. The Turkish journal of pediatrics 2018 1 59 (3): 311-314. ?eker-Y?lmaz Berna, Kör Deniz, Tümgör Gökhan, Ceylaner Serdar, Önenli-Mungan Neslih |
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