Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene

J Genet. 2014 Aug;93(2):527-30. doi: 10.1007/s12041-014-0394-8.
No abstract available

MeSH terms

  • Base Sequence
  • Codon, Nonsense
  • Consanguinity
  • DNA Mutational Analysis
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Guanylate Cyclase / genetics*
  • Humans
  • Leber Congenital Amaurosis / genetics*
  • Lod Score
  • Male
  • Pakistan
  • Pedigree
  • Receptors, Cell Surface / genetics*
  • Sequence Deletion

Substances

  • Codon, Nonsense
  • Receptors, Cell Surface
  • guanylate cyclase 1
  • Guanylate Cyclase