Currently, more than 1,000 mutations have been identified in the cystic fibrosis transmembrane regulator (CFTR) gene. While some mutations are common worldwide, the majority are restricted in certain ethnic groups. We have found that in Southern Italy, the 852del22 mutation is well represented with
β¦ LIBER β¦
Phenotypic and genotypic characterization ofPseudomonas aeruginosafrom cystic fibrosis patients
β Scribed by I. Leone; M. G. Chirillo; T. Raso; M. Zucca; D. Savoia
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 184 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0934-9723
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Phenotypic expression of genotypeβphenot
β
Angela Polizzi; Ruggiero Francavilla; Giuseppe Castaldo; Teresa Santostasi; Ross
π
Article
π
2005
π
John Wiley and Sons
π
English
β 158 KB
π 1 views
Genotype-phenotype correlation in cystic
β
M. De Braekeleer; Christian Allard; Jean-Pierre Leblanc; Fernand Simard; Gervais
π
Article
π
1997
π
Springer
π
English
β 30 KB
Novel contributions to the Asian CFTR mu
β
Iris Schrijver; Wikrom Karnsakul; Chanin Limwongse; Sudha Ramalingam; Ramalingam
π
Article
π
2005
π
John Wiley and Sons
π
English
β 88 KB
π 2 views
A clinical perspective of cystic fibrosi
β
Kulczycki, Lucas L. ;Kostuch, Marzena ;Bellanti, Joseph A.
π
Article
π
2002
π
John Wiley and Sons
π
English
β 130 KB
π 1 views
Characterization ofBurkholderia cepaciac
β
Yuan Fang; Miao-miao Lou; Bin Li; Guan-Lin Xie; Fang Wang; Li-Xin Zhang; Yuan-Ch
π
Article
π
2009
π
Springer
π
English
β 377 KB
Four adult patients with the missense mu
β
Marie Desgeorges; Michel Rodier; Michel Piot; Jacques Demaille; Mireille Claustr
π
Article
π
1995
π
Springer
π
English
β 318 KB
We report molecular and clinical analyses in four unrelated patients with cystic fibrosis (CF) with compound heterozygosity for the L206W mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR). This uncommon missense mutation (frequency less than 1% in a sample of 336 CF chr