Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival

J Med Genet. 2004 Jul;41(7):573-5. doi: 10.1136/jmg.2003.017632.
No abstract available

Publication types

  • Letter

MeSH terms

  • Cell Survival / genetics
  • Connexin 26
  • Connexins / genetics*
  • Connexins / physiology
  • Deafness / genetics*
  • Epidermis / chemistry
  • Epidermis / metabolism
  • Epidermis / physiology
  • Hearing Loss, Sensorineural / genetics
  • Heterozygote*
  • Humans
  • Mutation / genetics*
  • Mutation / physiology
  • Mutation, Missense / genetics
  • Mutation, Missense / physiology

Substances

  • Connexins
  • GJB2 protein, human
  • Connexin 26