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A case of Smith-Lemli-Opitz syndrome diagnosed by identification of mutations in the 7-dehydrocholesterol reductase (DHCR7) gene

机译：通过鉴定7-脱羟基醇还原酶（DHCR7）基因突变诊断的史密斯-LEMLI-OPITZ综合征

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Mee Rim Park; Jung Min Ko; Chong-Keun Cheon; Gu-Hwan Kim; Han-Wook Yoo;
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1. Two novel mutations of the human Delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome. [J] . Patrono C, Dionisi Vici C, Giannotti A, Molecular and Cellular Probes: The Location, Diagnosis and Monitoring of Disease by Specific Molecules and Cell Lines . 2002,第4期

机译：Smith-Lemli-Opitz综合征患儿的人类Delta7-甾醇还原酶（DHCR7）基因的两个新突变。
2. Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome. [J] . Jong-Hee Chae, Ki-Joong Kim, Yong-Seung Hwang, Journal of child neurology . 2007,第11期

机译：在患有Smith-Lemli-Opitz综合征的韩国患者中发现新的DHCR7突变。
3. Delivery of the 7-dehydrocholesterol reductase gene to the central nervous system using adeno-associated virus vector in a mouse model of Smith-Lemli-Opitz Syndrome [J] . Saloni Pasta, Omoye Akhile, Dorothy Tabron, Molecular Genetics and Metabolism Reports . 2015,第1期

机译：Smith-Lemli-Opitz综合征小鼠模型中使用腺相关病毒载体将7-脱氢胆固醇还原酶基因递送至中枢神经系统
4. Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome [C] . Katsiaryna Belaya, Sarah Finlayson, Judith Cossins, International Conference on Myasthenia Gravis and Related Disorders . 2012

机译：鉴定DPAGT1作为突变引起先天性染发素综合征的新基因
5. A canine model of Imerslund-Grasbeck syndrome: Genetic mapping, mutation identification and functional analysis. [D] . He, Qianchuan. 2005

机译：艾默斯隆-格拉斯贝克综合征的犬科动物模型：遗传作图，突变鉴定和功能分析。
6. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. [O] . H R Waterham, F A Wijburg, R C Hennekam, 1998

机译：Smith-Lemli-Opitz综合征是由7-脱氢胆固醇还原酶基因突变引起的。
7. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. [O] . Waterham, H R, Wijburg, F A, Hennekam, R C, 1998

机译：Smith-Lemli-Opitz综合征是由7-脱氢胆固醇还原酶基因突变引起的。

A case of Smith-Lemli-Opitz syndrome diagnosed by identification of mutations in the 7-dehydrocholesterol reductase (DHCR7) gene

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