Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNA(Ser(UCN)) gene

J Med Genet. 2002 Dec;39(12):e82. doi: 10.1136/jmg.39.12.e82.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA, Mitochondrial / genetics*
  • Female
  • Hearing Loss / genetics*
  • Hearing Loss / physiopathology
  • Heterozygote
  • Humans
  • Male
  • Pedigree
  • Phenotype
  • Point Mutation / genetics*
  • RNA, Transfer, Ser / genetics*
  • Spain

Substances

  • DNA, Mitochondrial
  • RNA, Transfer, Ser

Associated data

  • OMIM/520000
  • OMIM/530000
  • OMIM/540000