We have collated the results of cystic fibrosis (CF) mutation analysis conducted in 19 laboratories in France. We have analyzed 7,420 CF alleles, demonstrating a total of 310 different mutations including 24 not reported previously, accounting for 93.56% of CF genes. The most common were F508del (67
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens
✍ Scribed by T. Dörk; Bernd Dworniczak; Christa Aulehla-Scholz; Dagmar Wieczorek; Ingolf Böhm; Antonia Mayerova; Hans H. Seydewitz; Eberhard Nieschlag; Dieter Meschede; Jürgen Horst; Hans-Jürgen Pander; Herbert Sperling; Felix Ratjen; Eberhard Passarge; Jörg Schmidtke; Manfred Stuhrmann
- Publisher
- Springer
- Year
- 1997
- Tongue
- English
- Weight
- 166 KB
- Volume
- 100
- Category
- Article
- ISSN
- 0340-6717
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CFTR mutations enhance susceptibility for idiopathic chronic pancreatitis (ICP) and congenital bilateral absence of the vas deferens (CBAVD); however, it is unknown why CFTR heterozygotes are at increased disease risk. We recently showed that common CFTR variants are associated with aberrantly splic