A novel locus for Leber congenital amaurosis maps to chromosome 6q

Am J Hum Genet. 2000 Jan;66(1):319-26. doi: 10.1086/302719.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 6 / genetics*
  • Consanguinity
  • Extracellular Matrix Proteins*
  • Eye Proteins*
  • Genetic Markers
  • Genotype
  • Glycoproteins / genetics
  • Humans
  • Lod Score
  • Optic Atrophies, Hereditary / genetics*
  • Pedigree
  • Proteoglycans*
  • Receptors, GABA / genetics
  • Receptors, GABA-A
  • Receptors, GABA-B*

Substances

  • Extracellular Matrix Proteins
  • Eye Proteins
  • GABA type B receptor, subunit 1
  • GABRR2 protein, human
  • Genetic Markers
  • Glycoproteins
  • IMPG1 protein, human
  • Proteoglycans
  • Receptors, GABA
  • Receptors, GABA-A
  • Receptors, GABA-B