The 35delG mutation in the connexin 26 gene (GJB2) associated with congenital deafness: European carrier frequencies and evidence for its origin in ancient Greece.

@article{Lucotte2005The3M,
  title={The 35delG mutation in the connexin 26 gene (GJB2) associated with congenital deafness: European carrier frequencies and evidence for its origin in ancient Greece.},
  author={G. Lucotte and Florent Di{\'e}terlen},
  journal={Genetic testing},
  year={2005},
  volume={9 1},
  pages={20-5}
}
The 35delG mutation in the connexin 26 gene (GJB2) at the DFNB1 locus represents the most common mutation in Caucasian patients with genetic sensorineural deafness. This new meta-analysis concerns published carrier frequencies of the 35delG mutation in 27 populations for 6,628 unrelated individuals in Europe and in the Middle East; the mean carrier frequency of the mutation is 1.9%. Compared on a regional basis, the most elevated carrier frequency value is of 1 individual carrier in 31 in… CONTINUE READING

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