(DOWNLOAD) "Cystic Fibrosis Syndrome: A New Paradigm for Inherited Disorders and Implications for Molecular Diagnostics (Editorial)" by Clinical Chemistry # eBook PDF Kindle ePub Free
eBook details
- Title: Cystic Fibrosis Syndrome: A New Paradigm for Inherited Disorders and Implications for Molecular Diagnostics (Editorial)
- Author : Clinical Chemistry
- Release Date : January 01, 1999
- Genre: Chemistry,Books,Science & Nature,
- Pages : * pages
- Size : 183 KB
Description
In this issue, Castaldo et al. (1) describe the use of denaturing gradient gel electrophoresis to scan the CFTR gene in cystic fibrosis (CF) patients from Southern Italy who were negative for the common CF mutations. As expected, rare mutations were found, five of which were useful in population screening. These findings are particularly important for laboratories in Italy and in areas with families of Italian descent. Advanced molecular techniques provide a double-edged sword because they often detect sequence changes whose deleterious natures are by no means established. In the CFTR gene, such variants may cause classic CF, elicit atypical phenotypes with similarities to CF, or have no consequence to health.
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