CFTR gene mutations - Including three novel nucleotide substitutions - And haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease

Human Genetics

Volumn 108, Issue 3, 2001, Pages 216-221

  Tzetis, M ^a   Efthymiadou, A ^a   Strofalis, S ^a   Psychou, P ^a   Dimakou, A ^a   Pouliou, E ^a   Doudounakis, S ^a   Kanavakis, E ^a  

^a UNIVERSITY OF ATHENS   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; ASTHMA; BRONCHIECTASIS; CHILD; CHRONIC OBSTRUCTIVE LUNG DISEASE; CONTROLLED STUDY; DISEASE PREDISPOSITION; DNA FLANKING REGION; GENE MUTATION; GENETIC CODE; GREECE; HAPLOTYPE; HUMAN; HYPERACTIVITY; INCIDENCE; INFANT; MAJOR CLINICAL STUDY; MOLECULAR DYNAMICS; POPULATION RESEARCH; PRIORITY JOURNAL; RISK FACTOR; VARIANCE;

ADOLESCENT; ADULT; AGED; ASTHMA; BRONCHIECTASIS; CHILD; CHILD, PRESCHOOL; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA; DNA MUTATIONAL ANALYSIS; HAPLOTYPES; HUMANS; INFANT; LUNG DISEASES, OBSTRUCTIVE; MIDDLE AGED; MUTATION; POINT MUTATION; POLYMORPHISM, GENETIC;

BRONCHUS;

EID: 0035070082     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390100467     Document Type: Article

References (29)

1. Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease
2. Increased frequency of CFTR gene mutations in sarcoidosis: A case/control association study
3. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
4. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
5. A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations
6. Frequent occurrence of the CFTR intron 8 (TG)n5T allele in men with congenital bilateral absence of the vas deferens
7. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (TG)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation
8. DeltaF508 heterozygosity in cystic fibrosis and susceptibility to asthma
9. Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens
10. Abnormal distribution of cystic fibrosis delta F508 allele in adults with chronic bronchial hypersecretion
11. 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
12. Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: Association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease
13. Sweat chloride and delta F508 mutation in chronic bronchitis or bronchiectasis
14. CFTR gene mutations in adults with disseminated bronchiectasis
15. A novel cystic fibrosis gene mutation is common in patients with normal sweat chloride concentrations
16. Prenatal diagnosis of the thalassaemia syndromes by rapid DNA analytical methods
17. Cystic fibrosis mutation screening in CBAVD patients and men with obstructive azoospermia or severe oligospermia
18. Missense mutations in the cystic fibrosis gene in adult patients with asthma
19. High frequency of cystic fibrosis transmembrane regulator mutation L997F in patients with recurrent idiopathic pancreatitis and in newborns with hypertrypsinemia
20. Heterozygotes for the ΔF508 cystic fibrosis allele are not protected against bronchial asthma
21. A simple salting out procedure for extracting DNA from nucleated cells
22. Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9
23. Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis
24. CFTR gene variant IVS8-5T in disseminated bronchiectasis
25. Sequence analysis of the cystic fibrosis gene in patients with disseminated bronchiectatic lung disease
26. Protection against bronchial asthma by CFTR ΔF508 mutation: A heterozygote advantage in cystic fibrosis
27. Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations
28. Identification and developmental expression of the Xenopus laevis cystic fibrosis transmembrane conductance regulator gene
29. Cystic fibrosis