Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness

J Med Genet. 2001 Jun;38(6):396-400. doi: 10.1136/jmg.38.6.396.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Consanguinity
  • Deafness / genetics*
  • Family Health
  • Female
  • Genes, Recessive
  • Humans
  • Male
  • Membrane Proteins*
  • Mutation, Missense*
  • Neoplasm Proteins*
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Serine Endopeptidases / genetics*

Substances

  • Membrane Proteins
  • Neoplasm Proteins
  • Serine Endopeptidases
  • TMPRSS3 protein, human