机译:非洲巴西人和欧洲巴西人之间的高等位基因异质性影响囊性纤维化基因测试
Department of Genetics, Section of Clinical Biology, Universidade Federal do Parana, Curitiba, Parana, Brazil 81531-990;
Department of Genetics, Section of Clinical Biology, Universidade Federal do Parana, Curitiba, Parana, Brazil 81531-990;
Division of Pneumology, Department of Pediatrics, Hospital de Clinicas da Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil 30130-100;
Division of Pneumology, Department of Pediatrics, Hospital de Clinicas da Universidade Federal do Parana, Curitiba, Parana, Brazil 80060-900;
Division of Pneumology, Department of Pediatrics, Hospital Infantil Joana de Gusmao, Florianopolis, Santa Catarina, Brazil 88025-300;
Division of Pneurnology, Department of Pediatrics, Hospital Regional Hans Dieter Schmidt, Joinvile, Santa Catarina, Brazil 89227-680;
Division of Genetics, Department of Pediatrics and Biochemistry, Vanderbilt University School of Medicine, Nashville, TN. 37232-2195;
Genzyme Genetics, Framingham, MA 01701-9322;
Genzyme Genetics, Framingham, MA 01701-9322;
机译:囊性纤维化基因在巴西的等位基因异质性:下一代测序小组与下一代完整基因测序和MLPA结果的比较
机译:巴西的CFTR等位基因异质性:历史和地理学的观点以及对该国囊性纤维化的筛查和咨询的意义。
机译:不同囊性纤维化临床大分类中CFTR基因突变模式对基因检测的影响
机译:囊性纤维化跨膜电导调节剂基因突变引起'黑色'颜料胆结石形成:来自小鼠模型的新见解,以及对囊性纤维化治疗干预的影响
机译:遗传学方法对囊性纤维化和乳腺癌易感性的影响
机译:基因专利和许可实践对囊性纤维化遗传检测的影响
机译:巴西的CFTR等位基因异质性:历史和地理视角和对这个国家囊性纤维化筛选和咨询的影响
机译:囊性纤维化的基因检测:程序和摘要。 NIH共识发展会议。 1997年4月14日至16日在马里兰州贝塞斯达举行