Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.

@article{Gravina2010PrevalenceOD,
  title={Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.},
  author={Luis Pablo Gravina and Mar{\'i}a Eugenia Foncuberta and Mar{\'i}a Eugenia Prieto and Jeniffer Garrido and C Caballero Barreiro and Lilien Chertkoff},
  journal={International journal of pediatric otorhinolaryngology},
  year={2010},
  volume={74 3},
  pages={250-4}
}
OBJECTIVE Mutations in DFNB1 locus, containing GJB2 (connexin 26) and GJB6 (connexin 30) genes, are the most common cause of autosomal recessive non-syndromic hearing loss. More than 100 mutations in GJB2 have been reported worldwide. Two deletions in GJB6, del(GJB6-D13S1830) and del(GJB6-D13S1854), have been found to be frequent in the Spanish population. The aim of this study was to determine the prevalence of GJB2 mutations and both GJB6 deletions in Argentinean children with non-syndromic… CONTINUE READING
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