A total of 540 individuals with clinical signs suggestive of cystic fibrosis (CF) was studied. The sweat chloride was measured and the DF508, G542X, R553X, and W1282X mutations of the CF gene were screened by polymerase chain reaction (PCR). With this approach the diagnosis of CF was confirmed in 12
Mutation analysis in the diagnosis of cystic fibrosis
β Scribed by T. Deufel; H. Rabe; T. Wieser; T. Meitinger; J. Rosenecker; R. Bertele-Harms; K. Harms; H. -B. Hadorn; A. A. Roscher
- Publisher
- Springer
- Year
- 1993
- Tongue
- English
- Weight
- 304 KB
- Volume
- 152
- Category
- Article
- ISSN
- 0340-6997
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We carried out molecular analysis of 80 chromosomes from 40 unrelated Mexican patients with a diagnosis of cystic fibrosis. The study was performed in two PCR steps: a preliminary one to identify mutation β¬F508, the most frequent cause of cystic fibrosis worldwide, and the second a reverse dot-blot
A large number of mutations causing cystic fibrosis (CF) have been reported. In an attempt to improve methods for genetic diagnosis and for heterozygote screening, we evaluated methods for efficient analysis of the delta F508, G542X, G551D, R553X, and N1303K mutations. We found that multiple mutatio