Population variation of common cystic fibrosis mutations

Human Mutation

Volumn 4, Issue 3, 1994, Pages 167-177

[No Author Info available]

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CYSTIC FIBROSIS; DNA SEQUENCE; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; PRIORITY JOURNAL;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENETICS, POPULATION; HUMAN; MEMBRANE PROTEINS; MUTATION; SUPPORT, NON-U.S. GOV'T; VARIATION (GENETICS);

EID: 0028033069     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380040302     Document Type: Article

References (38)

1. Development of RN A‐SSCP protocols for the Identification and se reen ing of CFTR mutations
2. Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA→G
3. A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene
4. A nonsense mutation in exon 4 of the cystic fibrosis gene frequent among the population of the Reunion Island
5. Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients
6. A rare mutation (1078delT) in exon 7 of the CFTR gene in a Southern French adult with cystic fibrosis
7. Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in Southern France
8. Four new mutations of the CFTR gene (541deIC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes
9. Identification of a new frameshift mutation and a duplication polymorphism in the CFTR gene in the Algerian population
10. 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
11. A cluster of cystic fibrosis mutations in the first nucleotide‐binding fold of the cystic fibrosis conductance regulator protein
12. Worldwide survey of the ΔF508 mutation
13. Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients
14. Screening for non ΔF508 mutations in 5 exons of the CFTR gene in Italy
15. A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients
16. Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis transmembrane conductance regulator (CFTR) coding regions and splice site junctions
17. The search of Southern European cystic fibrosis mutations: Identification of two new mutations, four variants, and intron sequences
18. Identification of a nonframeshift 84‐bp deletion in exon 13 of the cystic fibrosis gene
19. A novel mutation in exon 3 of the CFTR gene
20. A deletion of two nucleotides in exon 10 of the CFTR gene in a Soviet family with cystic fibrosis causing early infant death
21. Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: Analysis of variant splicing and a nonsense mutation
22. A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator
23. Identification of the cystic fibrosis gene: Genetic analysis
24. Identification of mutations in regions corresponding to the 2 putative nucleotide (ATP)‐binding folds of the cystic fibrosis gene
25. Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutations
26. Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene
27. A mutation in the second nucleotide binding fold of the cystic fibrosis gene
28. Single strand conformation polymorphism analysis of the CFTR gene in Slovenian cystic fibrosis patients: Detection of mutations and sequence variations
29. Two novel mutations in the transmembane domain of the CFTR gene in subjects of Sardinian descent
30. A deletion mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) locus: ΔI507
31. A new mutation in the cystic fibrosis gene, comprised of rwo adjacent DNA alterations, is common among Georgian Jews
32. Characterization of an intron 12 splicc donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene
33. Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: A report from the Cystic Fibrosis Genetic Analysis Consortium
34. Three mutations in the CFTR gene in French Cystic Fibrosis Patients: Identification by denaturing gradient gel elec trophoresis
35. Detection of three rare frameshift mutations in the cystic fibrosis gene in an African‐American (CF444delA), and Italian (CF2522insC), and a Soviet (CF3821delT)
36. Identification of mutations in exons l through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
37. Identification of the M1101K mutation in the CFTR gene and complete detection of cystic fibrosis mutations in the Hutterite population