A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment

J Med Genet. 2005 Jul;42(7):588-94. doi: 10.1136/jmg.2004.028324.
No abstract available

Publication types

  • Letter
  • Multicenter Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Australia / epidemiology
  • Base Sequence / genetics
  • Belgium / epidemiology
  • Brazil / epidemiology
  • Connexin 26
  • Connexin 30
  • Connexins / genetics*
  • DNA Mutational Analysis
  • Founder Effect
  • France / epidemiology
  • Gene Frequency
  • Haplotypes
  • Hearing Loss / epidemiology
  • Hearing Loss / genetics*
  • Humans
  • Israel / epidemiology
  • Italy / epidemiology
  • Mutation*
  • Sequence Deletion*
  • Spain / epidemiology
  • United Kingdom / epidemiology
  • United States / epidemiology

Substances

  • Connexin 30
  • Connexins
  • GJB2 protein, human
  • GJB6 protein, human
  • Connexin 26