发明授权
- 专利标题： Cystic fibrosis transmembrane conductance regulator gene mutations
- 专利标题（中）： 囊性纤维化跨膜电导调节基因突变
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申请号： US13358322申请日： 2012-01-25
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公开(公告)号： US08753817B2公开(公告)日： 2014-06-17
- 发明人: Weimin Sun , Matthew J. McGinniss , Donghui Huang , Arlene Buller , Raymond Fenwick , Mei Peng , Franklin Quan
- 申请人： Weimin Sun , Matthew J. McGinniss , Donghui Huang , Arlene Buller , Raymond Fenwick , Mei Peng , Franklin Quan
- 申请人地址： US DE Wilmington
- 专利权人： Quest Diagnostics Investments Incorporated
- 当前专利权人： Quest Diagnostics Investments Incorporated
- 当前专利权人地址： US DE Wilmington
- 代理机构： Foley & Lardner LLP
- 主分类号： C12Q1/68
- IPC分类号： C12Q1/68 ; C12P19/34 ; C07H21/02
摘要：
The present invention provides novel mutations of the CFTR gene related to cystic fibrosis or to conditions associated with cystic fibrosis. Also provided are probes for detecting the mutant sequences. Methods of identifying if an individual has a genotype containing one or more mutations in the CFTR gene are further provided.