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Science. 1989 Sep 8;245(4922):1066-73.

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

Author information

  • 1Department of Biochemistry, Hospital for Sick Children, Toronto, Ontario, Canada.

Erratum in

  • Science 1989 Sep 29;245(4925):1437.

Abstract

Overlapping complementary DNA clones were isolated from epithelial cell libraries with a genomic DNA segment containing a portion of the putative cystic fibrosis (CF) locus, which is on chromosome 7. Transcripts, approximately 6500 nucleotides in size, were detectable in the tissues affected in patients with CF. The predicted protein consists of two similar motifs, each with (i) a domain having properties consistent with membrane association and (ii) a domain believed to be involved in ATP (adenosine triphosphate) binding. A deletion of three base pairs that results in the omission of a phenylalanine residue at the center of the first predicted nucleotide-binding domain was detected in CF patients.

PMID:
2475911
[PubMed - indexed for MEDLINE]
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