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Cystic fibrosis transmembrane conductance regulator gene mutations

摘要

The present invention provides novel mutations of the CFTR gene related to cystic fibrosis or to conditions associated with cystic fibrosis. The mutations include duplication of exons including duplication of exons 6b through 10. Methods of identifying if an individual contains the exons 6b through 10 duplication are provided as well as nucleic acid fragments that contain the junction site of the duplicated segment. The detection of additional mutations in the CFTR gene are also provided.

著录项

  • 公开/公告号US10655179B2

    专利类型

  • 公开/公告日2020.05.19

    原文格式PDF

  • 申请/专利权人

    申请/专利号US15864469

  • 发明设计人 Feras Hantash;

    申请日2018.01.08

  • 分类号

  • 国家 US

  • 入库时间 2022-08-21 10:59:03

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