Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders.

@article{Bareil2007ComprehensiveAR,
  title={Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders.},
  author={Corinne Bareil and Caroline Guittard and Jean-Pierre Alti{\'e}ri and Carine Templin and Mireille Claustres and Marie des Georges},
  journal={The Journal of molecular diagnostics : JMD},
  year={2007},
  volume={9 5},
  pages={582-8}
}
Available commercial kits only screen for the most common cystic fibrosis transmembrane conductance regulator (CFTR) mutations causing classic cystic fibrosis and for the Tn variant in IVS8. However, full scanning of CFTR is needed for the diagnosis of patients with cystic fibrosis or CFTR-related disorders (including congenital bilateral absence of the vas deferens) bearing rare mutations. Standard strategies for detecting point mutations rely on extensive scanning of the gene by denaturing… CONTINUE READING
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