Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss

J Med Genet. 2003 Aug;40(8):632-6. doi: 10.1136/jmg.40.8.632.
No abstract available

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child, Preschool
  • Cochlea / chemistry
  • Cochlea / metabolism
  • Cochlea / pathology
  • Female
  • Genetic Linkage / genetics
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Mutation*
  • Organ Specificity / genetics
  • Pedigree
  • RNA / genetics*
  • RNA, Mitochondrial
  • RNA, Ribosomal / genetics*
  • Spain
  • Syndrome

Substances

  • RNA, Mitochondrial
  • RNA, Ribosomal
  • RNA, ribosomal, 12S
  • RNA