Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.

@article{Groman2004VariationIA,
  title={Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.},
  author={Joshua D Groman and Timothy Hefferon and Teresa Casals and Llu{\'i}s Bassas and Xavier Estivill and Marie des Georges and Caroline Guittard and Monika Koudov{\'a} and M Daniele Fallin and Kriszt{\'i}na N{\'e}meth and Gyorgy Fekete and Ludov{\'i}t K{\'a}dasi and Ken Friedman and Martin J Schwarz and Cristina Bombieri and Pier Franco Pignatti and Emmanuel Kanavakis and Maria Tzetis and Marianne Schwartz and Giuseppe Novelli and Maria Rosaria D'Apice and Agnieszka Sobczyńska-Tomaszewska and Jerzy Bal and Manfred Stuhrmann and Milan Macek and Mireille Claustres and Garry R. Cutting},
  journal={American journal of human genetics},
  year={2004},
  volume={74 1},
  pages={176-9}
}
An abbreviated tract of five thymidines (5T) in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is found in approximately 10% of individuals in the general population. When found in trans with a severe CFTR mutation, 5T can result in male infertility, nonclassic cystic fibrosis, or a normal phenotype. To test whether the number of TG repeats adjacent to 5T influences disease penetrance, we determined TG repeat number in 98 patients with male infertility due to… CONTINUE READING

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