Share This Author
Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.
Identification of the cystic fibrosis gene: chromosome walking and jumping.
Several transcribed sequences and conserved segments were identified in this cloned region and one corresponds to the cystic fibrosis gene and spans approximately 250,000 base pairs of genomic DNA.
Identification of the cystic fibrosis gene: genetic analysis.
Erratum: Identification of the Cystic Fibrosis Gene: Genetic Analysis
Extended haplotype data based on DNA markers closely linked to the putative disease gene locus suggest that the remainder of the cystic fibrosis mutant gene pool consists of multiple, different mutations.
Erratum: Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA
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.
Molecular characterization of a common fragile site (FRA7H) on human chromosome 7 by the cloning of a simian virus 40 integration site.
These unusual DNA characteristics are possibly intrinsic properties of common fragile sites that may affect their replication and condensation as well as organization, and may lead to fragility.
Nucleotide Deficiency Promotes Genomic Instability in Early Stages of Cancer Development
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.
- B. Kerem, J. Zieleński, J. Rommens
- BiologyProceedings of the National Academy of Sciences…
- 1 November 1990
The highly heterogeneous nature of the remaining CF mutations provides important insights into the structure and function of the protein, but it also suggests that DNA-based genetic screening for CF carrier status will not be straightforward.
Molecular Basis for Expression of Common and Rare Fragile Sites
The results suggest that a shared molecular basis, conferred by sequences with a potential to form secondary structures that can perturb replication, may underlie the fragility of rare fragile sites harboring AT-rich minisatellite repeats and aphidicolin-induced common fragile sites.