Cystic fibrosis transmembrane conductance regulator gene mutations
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United States of America Patent
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Jan 9, 2018
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Jul 28, 2016
filing date -
Aug 18, 2005
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Abstract
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.
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