Glutathione S-transferase M1 gene null genotype and gastric cancer risk in Taiwan

中國醫藥大學機構典藏 China Medical University Repository, Taiwan > 台中附設醫院 > 期刊論文 > Item 310903500/29134

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题名:	Glutathione S-transferase M1 gene null genotype and gastric cancer risk in Taiwan
作者:	Lai, KC;Chen, WC;Tsai, FJ;Li, SY;Chou, MC;Jeng, LB
贡献者:	附設醫院外科部;China Med Univ Hosp, Dept Surg, Taichung, Taiwan;China Med Univ Hosp, Dept Med Genet, Taichung, Taiwan;Chung Shan Med Univ, Grad Inst Med, Taichung, Taiwan
日期:	2005
上传时间:	2010-09-24 14:23:18 (UTC+8)
出版者:	H G E UPDATE MEDICAL PUBLISHING S A
摘要:	A girl presented with a phenotype including neonatal hypotonia, psychomotor retardation, mental retardation, short stature, and facial dys-morphism. She demonstrated common features of both 14q31-qter duplication and terminal 14q deletion. She had undergone surgery for patent ductus arteriosus and pyloric stenosis in infancy. Her karyotype was 46,XX,der(14) dup(14)(q32.3 q31.3)del(14)(q32.3). Molecular cytogenetic analysis showed a paternally derived 14q31.3-q32.3 duplication and a terminal 14q deletion and led to the correlations between a particular genotype and phenotype. This is the first description of a deletion and inverted duplication of 14q and adds 14q to the growing list of the inverted duplication associated with a terminal deletion. (c) 2005 Wiley-Liss, Inc.
關聯:	HEPATO-GASTROENTEROLOGY 52(66):1916-1919
显示于类别:	[台中附設醫院] 期刊論文

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