MYO7A mutation screening in Usher syndrome type I patients from diverse origins

J Med Genet. 2007 Mar;44(3):e71. doi: 10.1136/jmg.2006.045377.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Codon, Nonsense
  • Czech Republic / ethnology
  • DNA Mutational Analysis
  • Dyneins / genetics*
  • Female
  • Humans
  • Italy / ethnology
  • Male
  • Molecular Sequence Data
  • Morocco / ethnology
  • Mutagenesis, Insertional
  • Mutation*
  • Mutation, Missense
  • Myosin VIIa
  • Myosins / genetics*
  • Pedigree
  • Point Mutation
  • Polymorphism, Single-Stranded Conformational
  • RNA Splice Sites / genetics
  • Sequence Alignment
  • Sequence Deletion
  • Sequence Homology, Amino Acid
  • Spain / ethnology
  • Tandem Repeat Sequences
  • Turkey / ethnology
  • Usher Syndromes / ethnology
  • Usher Syndromes / genetics*

Substances

  • Codon, Nonsense
  • MYO7A protein, human
  • Myosin VIIa
  • RNA Splice Sites
  • Myosins
  • Dyneins