Effect of norcantharidin on N-acetyltransferase activity in HepG2 cells

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题名:	Effect of norcantharidin on N-acetyltransferase activity in HepG2 cells
作者:	Wu, LT;Chung, JG;Chen, JC;Tsauer, W
贡献者:	醫學院醫學系微生物學科;China Med Coll, Dept Microbiol, Taichung 404, Taiwan
日期:	2001
上传时间:	2010-09-24 15:00:55 (UTC+8)
出版者:	INST ADVANCED RESEARCH ASIAN SCIENCE & MEDICINE, INC
摘要:	A pregnant woman accepted amniocentesis on account of the previous birth of type 1 oculocutaneous albinism (OCA1). PCR revealed that the fetus had two mutations (862delTT, Arg 299His). The father had one missense mutation (Arg 299Ser) and the mother had the same mutations as the fetus. Two mutations of the fetus located at the same allele were suspected. Postpartal follow-up confirmed his carrier status. For recessive disorders, faced with a fetus with two mutations. the importance of performing segregation analysis of mutation on both parents is emphasized. This could exclude two mutations located at the same allele and prevent the unnecessary termination of a fetus with carrier status. Copyright (C) 2001 John Wiley & Sons, Ltd.
關聯:	AMERICAN JOURNAL OF CHINESE MEDICINE 29(1):161-172
显示于类别:	[醫學系] 期刊論文

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