Introns and exons of the cystic fibrosis gene and mutations thereof

摘要: The identification, isolation and cloning of DNA sequences coding for mutant forms the cystic fibrosis gene their product are described. sequence information relating to genomic structure provided. CF include specific alterations in portions or other genetic at exon/intron boundaries altered RNA transcripts protein products. Such is useful developing diagnosis mutations, carrier patient screening, as well genes manufacturing proteins investigation into therapies fibrosis.