We have analysed the segregation of a TA-repeat polymorphism in intron 17b of the cystic fibrosis transmembrane conductance regulator gene responsible for cystic fibrosis (CF) in 23 French CF families non-informative for the delta F508 mutation (i.e. with at least one parent not carrying delta F508)
Informativity of intragenic microsatellites for carrier detection and prenatal diagnosis of cystic fibrosis in the Italian population
β Scribed by C. Magnani; L. Cremonesi; E. Belloni; M. Ferrari; M. Seia; M. P. Russo; M. Devoto; P. Ronchetto; G. Romeo
- Book ID
- 115091499
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 452 KB
- Volume
- 45
- Category
- Article
- ISSN
- 0009-9163
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Fetal echogenic bowel has been reported as a normal variant in the second trimester, and has also been associated with an adverse fetal outcome, including cystic fibrosis (CF), an autosomal recessive genetic disease. Previous studies have reported that 3.3 to 13.3 per cent of fetuses with echogenic