21. Molecular diagnosis of cystic fibrosis in Yugoslavian population
β Scribed by D. Radivojevic; M. Guc-Scekic; E. Kanavakis; J. Savic; M. Tzetis; T. Antoniadi; P. Minic; M. Djurisic; T. Lalic; A. Cvetkovic
- Book ID
- 117454872
- Publisher
- Elsevier Science
- Year
- 1999
- Tongue
- English
- Weight
- 16 KB
- Volume
- 54
- Category
- Article
- ISSN
- 0300-2977
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Hungarian cystic fibrosis (CF) families (n = 33) including 114 family members have been analysed for the presence of the delta F508 mutation within the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and have been haplotyped with probes for restriction fragment length polymorphisms
Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasian populations. The Spanish CF population is highly heterogeneous, with more than 70 different mutations causing CF. Since the CFTR gene was cloned, we have performed 81 prenatal diagnoses for 74 couples. Sixty-nine cases