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

AuthorsA Eliot Shearer, Michael S Hildebrand, Catherine J Bromhead, Kimia Kahrizi, Jennifer A Webster, Batool Azadeh, William J Kimberling, Ali Anousheh, Arash Nazeri, Dietrich Stephan, Hossein Najmabadi, Richard J H Smith, Melanie Bahlo
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 149A Issue 3 Pg. 555-8 (Mar 2009) ISSN: 1552-4833 [Electronic] United States
PMID19215054 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
Chemical References
  • Cytoskeletal Proteins
  • Genetic Markers
  • Membrane Proteins
  • RNA Splice Sites
  • radixin
  • DNA
Topics
  • Case-Control Studies
  • Chromosomes, Human, Pair 11
  • Cytoskeletal Proteins (chemistry, genetics)
  • DNA (genetics, isolation & purification)
  • Family
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Hearing Loss (genetics)
  • Heterozygote
  • Homozygote
  • Humans
  • Introns
  • Iran
  • Lod Score
  • Male
  • Membrane Proteins (chemistry, genetics)
  • Mutation
  • Oligonucleotide Array Sequence Analysis
  • Pedigree
  • Physical Chromosome Mapping
  • Polymorphism, Single Nucleotide
  • Protein Structure, Tertiary
  • RNA Splice Sites (genetics)
  • Recombination, Genetic

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