Introns and exons of the cystic fibrosis gene and mutations thereof
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United States of America Patent
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Dec 14, 1999
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N/A
app pub date -
Jul 13, 1992
filing date -
Jan 12, 1990
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Abstract
The identification, isolation and cloning of DNA sequences coding for mutant forms of the cystic fibrosis gene and their gene product are described. DNA sequence information and information relating to the genomic structure of the cystic fibrosis gene are provided. The mutant forms of the CF gene include specific sequence alterations in coding portions or of other genetic information at exon/intron boundaries and altered RNA transcripts and mutant protein products. Such DNA and protein information is useful in developing DNA or protein diagnosis for CF mutations, carrier and patient screening, as well as cloning of mutant genes and manufacturing of their proteins for investigation into therapies for cystic fibrosis.
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