A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome

Hum Mutat. 1998:Suppl 1:S134-6. doi: 10.1002/humu.1380110145.
No abstract available

Publication types

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

MeSH terms

  • Arginine*
  • Codon, Terminator / genetics
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Family Health
  • Fatal Outcome
  • Female
  • Fibroblasts
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Membrane Proteins / genetics*
  • Mutation
  • Pedigree
  • Peroxisomal Biogenesis Factor 2
  • Point Mutation
  • Zellweger Syndrome / genetics*
  • Zellweger Syndrome / pathology

Substances

  • Codon, Terminator
  • Membrane Proteins
  • Peroxisomal Biogenesis Factor 2
  • DNA
  • Arginine

Associated data

  • GENBANK/M86852