A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family

Am J Med Genet A. 2009 Mar;149A(3):555-8. doi: 10.1002/ajmg.a.32670.
No abstract available

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • Chromosomes, Human, Pair 11
  • Cytoskeletal Proteins / chemistry
  • Cytoskeletal Proteins / genetics*
  • DNA / genetics
  • DNA / isolation & purification
  • Family*
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Hearing Loss / genetics*
  • Heterozygote
  • Homozygote
  • Humans
  • Introns
  • Iran
  • Lod Score
  • Male
  • Membrane Proteins / chemistry
  • Membrane Proteins / genetics*
  • Mutation*
  • Oligonucleotide Array Sequence Analysis
  • Pedigree
  • Physical Chromosome Mapping
  • Polymorphism, Single Nucleotide
  • Protein Structure, Tertiary
  • RNA Splice Sites / genetics*
  • Recombination, Genetic

Substances

  • Cytoskeletal Proteins
  • Genetic Markers
  • Membrane Proteins
  • RNA Splice Sites
  • radixin
  • DNA