Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: A report from the cystic fibrosis genetic analysis consortium
- 1 January 1992
- journal article
- review article
- Published by Hindawi Limited in Human Mutation
- Vol. 1 (3) , 197-203
- https://doi.org/10.1002/humu.1380010304
Abstract
Cystic fibrosis is the most common autosomal disorder in the Caucasian population. Since the description of the major mutation of this disease in 1989, over 150 of additional mutations have been identified in the CFTR gene. This update summarizes the different mutations identified and reported before March 15 by members of the international Cystic Fibrosis Genetic Analysis Consortium. The report includes information on DNA sequence variations found in the gene.Keywords
This publication has 40 references indexed in Scilit:
- A new mutation (1078delT) in exon 7 of the CFTR gene in a southern French adult with cystic fibrosisGenomics, 1992
- A 22-bp deletion in the coding region of the cystic fibrosis geneGenomics, 1992
- Identification of a frameshift mutation (557 del T) in exon 4 of the CFTR geneGenomics, 1992
- Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutationHuman Molecular Genetics, 1992
- A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A → G) in exon 19 of the cystic fibrosis transmembrane conductance regulator geneGenomics, 1992
- Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutationsMolecular and Cellular Probes, 1992
- A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulatorHuman Mutation, 1992
- CAGT Microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingoverGenomics, 1991
- A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosisGenomics, 1991
- A frame-shift mutation in the cystic fibrosis geneNature, 1990