Mutation of PAX2 in two siblings with renal-coloboma syndrome

Hum Mol Genet. 1995 Nov;4(11):2183-4. doi: 10.1093/hmg/4.11.2183.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Coloboma / genetics*
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Female
  • Humans
  • Kidney Diseases / genetics*
  • Male
  • Mutation*
  • Optic Nerve / abnormalities*
  • PAX2 Transcription Factor
  • Pigment Epithelium of Eye / abnormalities*
  • Syndrome
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism

Substances

  • DNA-Binding Proteins
  • PAX2 Transcription Factor
  • PAX2 protein, human
  • Transcription Factors