A frameshift mutation in SANS results in atypical Usher syndrome

Clin Genet. 2010 Dec;78(6):601-3. doi: 10.1111/j.1399-0004.2010.01500.x.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural

MeSH terms

  • Base Sequence
  • Frameshift Mutation / genetics*
  • Haplotypes
  • Humans
  • Molecular Sequence Data
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • Usher Syndromes / genetics*

Substances

  • Nerve Tissue Proteins
  • USH1G protein, human