Article
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.
Proceedings of the National Academy of Sciences of the United States of America - 1 Nov 1990
Kerem B S, Zielenski J, Markiewicz D, Bozon D, Gazit E, Yahav J, Kennedy D, Riordan J R, Collins F S, Rommens J M
Abstract excerpt
Additional mutations in the cystic fibrosis (CF) gene were identified in the regions corresponding to the two putative nucleotide (ATP)-binding folds (NBFs) of the predicted polypeptide. The patient cohort included 46 Canadian CF families with well-characterized DNA marker haplotypes spanning the...
Topics
- Adenosine Triphosphate
- Alleles
- Amino Acid Sequence
- Base Sequence
- Binding Sites
- Chromosome Deletion
- Cloning, Molecular
- Cystic Fibrosis
- DNA
- Haplotypes
- Humans
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes