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Congenital bilateral absence of the vas deferens and recombination at CFTR

✍ Scribed by Haig, David


Book ID
110026624
Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
43 KB
Volume
14
Category
Article
ISSN
1018-4813

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πŸ“œ SIMILAR VOLUMES


Congenital bilateral absence of the vas
✍ R. D. Oates; J. A. Amos πŸ“‚ Article πŸ“… 1993 πŸ› Springer-Verlag 🌐 English βš– 798 KB

CF and CBAVD are really just ends of a clinical spectrum. The type and nature of the mutations in the CF gene probably determine the phenotypic expression of the patient. Perhaps all patients homozygous for AF508, for example, will have severe pulmonary and pancreatic disease as well as absent vasa,

Common CFTR haplotypes and susceptibilit
✍ Bernhard Steiner; Jonas Rosendahl; Heiko Witt; Niels Teich; Volker Keim; Hans-Ul πŸ“‚ Article πŸ“… 2012 πŸ› John Wiley and Sons 🌐 English βš– 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 PfΓΌtzer, \({ }^{6}\) Matthias LΓΆhr, \({ }^{7}\) 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 πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 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