Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene
- 31 December 1993
- Vol. 18 (3) , 693-697
- https://doi.org/10.1016/s0888-7543(05)80376-3
Abstract
No abstract availableKeywords
This publication has 19 references indexed in Scilit:
- Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNANature Genetics, 1993
- Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis.Journal of Clinical Investigation, 1992
- Molecular characterization of cystic fibrosis: 16 Novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctionsGenomics, 1992
- Detection of over 98% cystic fibrosis mutations in a Celtic populationNature Genetics, 1992
- Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutationHuman Molecular Genetics, 1992
- Simultaneous screening for 11 mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex amplification and reverse dot-blotMolecular and Cellular Probes, 1992
- Demonstration That CFTR Is a Chloride Channel by Alteration of Its Anion SelectivityScience, 1991
- A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephewJournal of Medical Genetics, 1990
- Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patientsCell, 1990
- Identification of the Cystic Fibrosis Gene: Genetic AnalysisScience, 1989