Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation

J Med Genet. 2004 May;41(5):e62. doi: 10.1136/jmg.2003.013557.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Amino Acid Substitution
  • Chromosome Mapping
  • Chromosomes, Human, Pair 11
  • Disease Progression
  • Dyneins
  • Female
  • Genes, Dominant
  • Glycine / genetics
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Male
  • Models, Molecular
  • Molecular Sequence Data
  • Mutation*
  • Myosin VIIa
  • Myosins / chemistry
  • Myosins / genetics*
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Protein Structure, Tertiary

Substances

  • MYO7A protein, human
  • Myosin VIIa
  • Myosins
  • Dyneins
  • Glycine