Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophy

Hum Genet. 2009 Aug;126(2):330.
No abstract available

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Base Sequence
  • Codon
  • Codon, Nonsense*
  • Corneal Dystrophies, Hereditary / genetics*
  • Humans
  • Molecular Sequence Data
  • Mutation, Missense*
  • Nucleotides / genetics*
  • Sequence Analysis, DNA

Substances

  • ABCA4 protein, human
  • ATP-Binding Cassette Transporters
  • Codon
  • Codon, Nonsense
  • Nucleotides

Associated data

  • GENBANK/HM080093