Novel human pathological mutations. Gene symbol: OA1. Disease: albinism, ocular

Hum Genet. 2009 Apr;125(3):349.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Albinism, Ocular / genetics*
  • Base Sequence
  • Codon / genetics
  • Codon, Nonsense
  • Exons
  • Eye Proteins / genetics*
  • Female
  • Humans
  • Male
  • Membrane Glycoproteins / genetics*
  • Molecular Sequence Data
  • Sequence Deletion

Substances

  • Codon
  • Codon, Nonsense
  • Eye Proteins
  • GPR143 protein, human
  • Membrane Glycoproteins

Associated data

  • GENBANK/HD080025