Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families

J Genet. 2015 Sep;94(3):483-7. doi: 10.1007/s12041-015-0537-6.
No abstract available

MeSH terms

  • Base Sequence
  • Connexin 26
  • Connexins / genetics
  • Consanguinity*
  • Deafness / genetics
  • Family
  • Female
  • Genes, Recessive*
  • Genetic Predisposition to Disease*
  • Humans
  • Iran
  • Male
  • Molecular Sequence Data
  • Mutation / genetics*
  • Pakistan
  • Pedigree
  • Receptors, Cell Surface / genetics*
  • Saudi Arabia

Substances

  • Connexins
  • ILDR1 protein, human
  • Receptors, Cell Surface
  • Connexin 26

Supplementary concepts

  • Nonsyndromic Deafness