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		题名	作者	年代	出处	被引量
	1	Clinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis显示文摘AIM: To investigate clinical profiles and mutations of ABCB11 in Koreans with progressive familial intrahepatic cholestasis 2 and review the differences between Koreans and others.METHODS: Of 47 patients with neonatal cholestasis, five infants had chronic intrahepatic cholestasis with normal γ-glutamyl transpeptidase. Direct sequencing analyses of ABCB11, including exons and introns, were performed from peripheral blood.RESULTS: Living donor-liver transplantation was performed in four patients because of rapidly progressive hepatic failure and hepatocellular carcinoma. Three missense mutations were found in two patients: compound heterozygous 677C>T(S226L)/3007G>A(G1003R) and heterozygous 2296G>A(G766R). The mutations were located near and in the transmembranous space. CONCLUSION: Alterations in the transmembrane of the bile salt export pump in the Korean infants were different from those previously reported in Chinese, Japanease, Taiwan Residents, and European patients.	Ji Sook Park Jae Sung Ko Jeong Kee Seo Jin Soo Moon Sung Sup Park	2016	World Journal of Gastroenterology2016，22，20：	0

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