Connexin-26 mutations in sporadic and inherited sensorineural deafness

@article{Estivill1998Connexin26MI,
  title={Connexin-26 mutations in sporadic and inherited sensorineural deafness},
  author={Xavier Estivill and Paolo Fortina and Saul Surrey and Raquel Rabionet and Paolo Gasparini},
  journal={The Lancet},
  year={1998},
  volume={351},
  pages={394-398}
}
BACKGROUND Hearing impairment affects one infant in 1000 and 4% of people aged younger than 45 years. Congenital deafness is inherited or apparently sporadic. We have shown previously that DFNB1 on chromosome 13 is a major locus for recessive deafness in about 80% of Mediterranean families and that the connexin-26 gene gap junction protein beta2 (GJB2) is mutated in DFNB1 families. We investigated mutations in the GJB2 gene in familial and sporadic cases of deafness. METHODS We obtained DNA… CONTINUE READING
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