CFTR mutations in Chilean cystic fibrosis patients
โ Scribed by Juan Rios; Omar Orellana; Manuel Aspillaga; Isabel Avendano; Isabel Largo; Nora Riveros
- Publisher
- Springer
- Year
- 1994
- Tongue
- English
- Weight
- 441 KB
- Volume
- 94
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
The cystic fibrosis transmembrane conductance regulator (CFTR) gene of 110 cystic fibrosis (CF) patients from the south-west of Germany was screened for 12 different mutations. This analysis resulted in an identification of 79% of all CF mutations and a complete genotype in 66% of the families. The
German patients with cystic fibrosis (CF) were screened for molecular lesions in exon 13 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by single strand conformation polymorphism (SSCP) and chemical cleavage of mismatch analyses. Direct sequencing of four samples that display
Mutation analysis was performed on 42 unrelated Israeli Arab CF patients. The previously known mutations in this population, โ โF508, N1303K, G542X, 4010delTATT, and S549R(T>G), were identified in 57 CF alleles, leaving 28 CF alleles with unknown mutations. Screening of the coding sequence of the CF
In order to facilitate the screening for the less common mutations in the cystic fibrosis (CF) gene viz., the CF transmembrane conductance regulator gene (CFTR), marker haplotypes were determined for German non-CF (N) and CF chromosomes by polymerase chain reaction analysis of four polymorphisms ups