Lack of correlation between pulmonary disease and cystic fibrosis transmembrane conductance regulator dysfunction in cystic fibrosis: a case report
✍ Scribed by Hara Levy, Carolynn L Cannon, Daniel Asher…
- Book ID
- 120718949
- Publisher
- BioMed Central
- Year
- 2010
- Tongue
- English
- Weight
- 566 KB
- Volume
- 4
- Category
- Article
- ISSN
- 1752-1947
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
## Communicated by Lap-Chee Tsui German cystic fibrosis (CF) chromosomes were screened for molecular lesions in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by chemical cleavage of mismatch. An 3884G-to-A transition was detected in two patients which leads to an e
Cystic fibrosis is the most common autosomal disorder in the Caucasian population. Since the description of the major mutation of this disease in 1989, over 150 of additional mutations have been identified in the CFTR gene. This update summarizes the different mutations identified and reported befor