𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Spectrum of CFTR mutations in cystic fib
✍ Mireille Claustres; Caroline Guittard; Dominique Bozon; Françoise Chevalier; Cla 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 532 KB

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

Common CFTR haplotypes and susceptibilit
✍ Bernhard Steiner; Jonas Rosendahl; Heiko Witt; Niels Teich; Volker Keim; Hans-Ul 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 85 KB

Bernhard Steiner, \({ }^{1 \dagger}\) Jonas Rosendahl, \({ }^{2 \dagger}\) Heiko Witt, \({ }_{3}^{3}\) Niels Teich, \({ }^{4}\) Volker Keim, \({ }^{2}\) Hans-Ulrich Schulz, \({ }^{5}\) Roland Pfützer, \({ }^{6}\) Matthias Löhr, \({ }^{7}\) Thomas M. Gress, \({ }^{8}\) Renate Nickel, \({ }^{9}\) Olfe

Common CFTR haplotypes and susceptibilit
✍ Bernhard Steiner; Jonas Rosendahl; Heiko Witt; Niels Teich; Volker Keim; Hans-Ul 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 219 KB

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