Congenital bilateral absence of the vas deferens and recombination at CFTR
β 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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π SIMILAR VOLUMES
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,
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
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