Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease

J Med Genet. 2002 Aug;39(8):e47. doi: 10.1136/jmg.39.8.e47.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • GTP Phosphohydrolases / deficiency*
  • GTP Phosphohydrolases / genetics*
  • Gene Deletion*
  • Gene Dosage
  • Genetic Carrier Screening
  • Haplotypes / genetics*
  • Humans
  • Male
  • Microsatellite Repeats / genetics
  • Optic Atrophy, Autosomal Dominant / enzymology*
  • Optic Atrophy, Autosomal Dominant / etiology
  • Optic Atrophy, Autosomal Dominant / genetics*
  • Pedigree
  • Polymorphism, Single Nucleotide / genetics

Substances

  • GTP Phosphohydrolases
  • OPA1 protein, human