Characterization of a mutation within the NDP gene in a family with a manifesting female carrier

Hum Mol Genet. 1993 Oct;2(10):1727-9. doi: 10.1093/hmg/2.10.1727.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Blindness / congenital
  • Blindness / genetics*
  • Child Behavior Disorders / genetics*
  • Dosage Compensation, Genetic
  • Eye Proteins / genetics*
  • Female
  • Genes*
  • Hearing Loss, Sensorineural / genetics
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • Retina / abnormalities*
  • X Chromosome*

Substances

  • Eye Proteins
  • NDP protein, human
  • Nerve Tissue Proteins