Novel frameshift mutation in exon 4 of CFTR gene
β Scribed by T. Ivaschenko; M. Bakay; V. Baranov
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 156 KB
- Volume
- 5
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
β¦ Synopsis
Communicated by Michel Coossens
Cystic fibrosis (CF) is a common recessive lethal genetic disorder caused by various mutations in the
π SIMILAR VOLUMES
During the course of screening the DNA of cystic fibrosis patients for the presence of unknown mutations using the single-strand conformational polymorphism (SSCP) technique (Orita et al., 1989) in a modified nonisotopic form on the Pharmacia Phast system as proposed by Dockhorn-Dworniczak et al. (1
The cystic fibrosis transmembrane conductance regulator (CFTR) is
The mutation described here has been detected in the DNA of a female cystic fibrosis (CF) patient born in May 1963. CF has been diagnosed only at the age of 30 years and has been confirmed by three positive sweat tests. She does not require supplementation with pancreatic enzymes and her pulmonary f