The molecular polymorphism and quantitative data of serum transferrin (Tf) were ascertained in a group of fibrocystic patients, their parents and controls. Quantitative rates of pre-albumin, retinol binding globulin (RBG) and alpha-1-glycoprotein were also investigated as a reference for the evaluat
Genetic variants of transferrin in cystic fibrosis
✍ Scribed by E. Marklová; Z. Albahri; H. Vaníček; P. Dědek; M. Vališ; M. Kopáčová; V. Vávrová
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 314 KB
- Volume
- 31
- Category
- Article
- ISSN
- 0141-8955
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
In a survey by questionnaire of 572 families with one or more children affected with cystic fibrosis 72% were found to have received genetic counselling. The mode of inheritance was correctly known by only 45% and either not known or incorrectly known by the others. About 75% expressed the wish for
Cystic fibrosis (CF) is an autosomal recessive disease characterized by obstruction and chronic infections of the respiratory tract and pancreatic insufficiency. The gene was cloned in 1989 and the most frequent mutation was shown to be the delta F508 mutation. During PGD, embryos obtained in vitro